does tom cruise have klinefelter syndrome

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Top 15 Famous People with Klinefelter Syndrome

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1. lili elbe.

Lili Elbe. Image by unknown author- Wikimedia

2. Brooke Moore

3. caster semenya.

Caster Semenya. Photo by Tab59 from Düsseldorf, Allemagne- Wikimedia

4. Lauren Forster

5. tom cruise.

Tom cruise. Image by Gage Skidmore- Wikimedia

6. Caroline Cossey

7. veronique francoise caroline renard, 9. janet mock.

Janet Mock. Image by Juston Smith- Wikimedia

10. Jamie Lee Curtis

Jamee Lee Curtis. Image by Josh Hallett- Wikimedia

11. Charles Barkley

Gallery 2 Images , CC BY-SA 2.0 , via Wikimedia Commons

12. Michael Phelp

13. richard branson  .

Chatham House , CC BY 2.0 , via Wikimedia Commons

14. Tony Robins

15. floyd mayweather jr.

DEWALT POWER TOOLS FIGHT NIGHT CLUB 2010 , CC BY-SA 2.0 , via Wikimedia Commons

15 Facts about Klinefelter Syndrome: Understanding the Genetics and Diagnosis

1. klinefelter syndrome is characterized by the presence of an extra x chromosome.

User:Nami-ja , Public domain, via Wikimedia Commons

2. It occurs in around 1 in 500 to 1 in 1,000 newborn males

Sydney S. Gellis and Murray Feingold , Public domain, via Wikimedia Commons

3. The extra X chromosome usually comes from either the egg or the sperm

Calicut Medical College , CC BY-SA 4.0 , via Wikimedia Commons

4. The severity of symptoms can vary widely among individuals with Klinefelter Syndrome

Nicole Tartaglia, Natalie Ayari, Susan Howell, Cheryl D’Epagnier, Philip Zeitler , Public domain, via Wikimedia Commons

5. The majority of individuals with Klinefelter Syndrome are infertile

GaryH3737 , CC BY-SA 4.0 , via Wikimedia Commons

6. Language, learning, and reading disabilities occur more commonly among affected individuals

CDL69 , CC BY-SA 3.0 , via Wikimedia Commons

7. The extra X chromosome interferes with normal testicular development

UPO649 1112 mreycor1 , CC BY-SA 3.0 , via Wikimedia Commons

8. There is an increased risk of certain health conditions

9. most people with klinefelter are not diagnosed until adulthood, if ever, 10. klinefelter syndrome is not typically inherited from the father in the way many genetic conditions are passed down, 11. testosterone replacement therapy (trt) is often used to address hormonal imbalances and promote physical development, 12. anxiety, depression, and social challenges are more common in individuals with ks.

13. While there’s no cure for KS, various treatments can address specific symptoms and improve quality of life

14. providing psychological and educational support to individuals with klinefelter syndrome and their families is crucial , 15. individuals with klinefelter syndrome (ks) can lead successful and fulfilling lives.

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10 famous people with Klinefelter syndrome you probably didn't know about

Klinefelter syndrome is a genetic disorder that occurs when a baby boy is born with an extra X chromosome resulting in XXY instead of XY. The condition is often diagnosed in adulthood. Many prominent people are living with this condition, yet it hasn't stopped them from succeeding. Who are the famous people with Klinefelter syndrome?

TABLE OF CONTENTS

1. george washington, 2. lili elbe, 3. castor semenya, 4. tom cruise, 5. janet mock, 6. lauren foster, 7. caroline cossey, 8. jaime lee curtis, 9. dr. renée richards, 10. veronique francoise caroline renard.

Can a girl have Klinefelter's syndrome? Klinefelter syndrome (47, XXY) is a condition that affects men born with an extra X chromosome resulting in an XXY sex chromosome karyotype. Most men don't realize they have this condition because its symptoms are mild.

In severe cases, the men will have a small manhood, wider hips, less facial and body hair, fewer muscles, and enlarged br*asts. Additionally, they will experience infertility, low sexual drive, learning disorders, and speech difficulties.

10 famous people with Klinefelter syndrome

How common is Klinefelter syndrome? Approximately one in about 500 to 800 male children are born with Klinefelter syndrome annually. The syndrome affects all social classes, including the most prominent and influential individuals. Here is a list of 10 famous male people with Klinefelter syndrome you probably didn't know about.

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What famous people have Klinefelter syndrome? George Washington, an American soldier, statesman, and founding father, served as the first president of the United States of America from 1789 to 1797. It is alleged that George Washington had Klinefelter syndrome, with some even speculating that he was infertile as his only two children were adopted.

In addition to his purported sterility, a typical indication of Klinefelter syndrome, Washington's physical characteristics also supported this claim. He was 6'12" tall, which is common for men with this condition. However, there is no documented proof that he suffered from Klinefelter syndrome.

Lili Elbe was a prominent Danish painter who was born in December 1882. Her birth name was Einar Andrea Magnus Wegner, but she changed it to Lili Elbe in 1931 after undergoing sex transition surgery. The consensus is that she suffered from Klinefelter syndrome.

Lili was castrated in 1930 by Dr Ludwig Levy-Lenz, which considerably encouraged rumours that she had the syndrome. Additionally, her feminine-appearing body shape, face, and legs fueled curiosity regarding her condition. Unfortunately, in 1931, Lili died while undergoing a uterus implant. She also did not have any biological children.

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Castor Semenya is a famous South African athlete and an Olympics gold medalist. It is rumoured that she has Klinefelter syndrome, mainly due to her physical appearance. However, her condition has never been disclosed publicly. Many say that she should not be permitted to compete with other women due to her high testosterone level, which gives her an upper hand in the sport.

She has faced numerous challenges, including a mandatory medical examination under the guise of a doping test and being compelled to take dr*gs to reduce her testosterone levels. Semenya and her wife, Violet, had a kid through artificial insemination .

Does Tom Cruise have Klinefelter syndrome? Tom Cruise is one of the most influential and famous people with Klinefelter syndrome. He is a renowned American actor who has won many accolades for his work. It has been rumoured that Tom has had Klinefelter syndrome for a very long time, although there is no evidence to support this allegation.

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He is tall and has a rounded body type and wide hips, which are some of the symptoms of this condition. Additionally, he is not the biological father of his three children and allegedly suffers from dyslexia (another symptom of Klinefelter).

Janet Mock is another famous person with Klinefelter syndrome. She is an American writer, television personality, producer, director, and activist for transgender rights, who was given the name Charles at birth as she was born male .

Janet changed her gender through sex reassignment surgery and became a transgender activist to help others with similar conditions. However, she still refuses to answer personal questions regarding her physique in interviews and on television.

Lauren, a South African supermodel born in Durban, was diagnosed with Klinefelter syndrome at a young age. Her family was very supportive and went out of their way to accept her as a girl. She began hormone therapy at 17, and one year later, she underwent gender affirmation surgery. As a result of her sharp cheekbones and piercing blue eyes, she became a successful model and conquered the beauty and fashion world .

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Forster eventually found acceptance and continued to grace the glossy pages of the industry's leading fashion publications, although a tabloid had once published a story identifying her as a man. She is also an LGBTQ community advocate on her social media platforms.

Caroline Cossey, born in August 1954, is a famous model from Britain popularly known by her stage name Tula. In 1981, she appeared in the James Bond film For Your Eyes Only . Following her appearance in the film, his transgender status was revealed to the world.

Even though she was born and raised as a male, she always acknowledged in his memoirs that she was uncertain about her sexuality. Additionally, she claims that her peers constantly bullied her due to his feminine appearance. Caroline was diagnosed with Klinefelter syndrome at 17 and began hormone therapy immediately after that.

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Jaime Lee Curtis is a well-known Hollywood actress, author, blogger, and activist who reportedly was born with an intersex disorder. Some individuals even believe she was born a man with Klinefelter syndrome. Additionally, there is widespread speculation that Jaime had sex reassignment to appear more feminine.

However, she has frequently neglected to answer questions regarding this allegation in her interviews, which has only served to amplify the notion. Some argue that her parents gave her a gender-neutral name so that it would fit her regardless of whether she transitioned to a woman. Her feminine appearance has also contributed significantly to the spreading of rumours.

One of the famous people with Klinefelter syndrome is Dr Renée Richards. She is an American author, ophthalmologist, and former tennis player. She is also a transgender activist who pioneered the rights of transgender people in sports .

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She competed professionally in the 1970s and gained widespread recognition after undergoing sex reassignment surgery to participate as a woman in the 1976 US Open. However, she was barred from doing so because of new legislation requiring female contestants to have only two X chromosomes. Richards refused to take the mandatory examinations, appealed the decision and won. Despite her condition, she had a brief career as a tennis player after this occurrence.

Veronique Francoise Caroline Renard is one of the famous people with Klinefelter syndrome. She is a popular Dutch actress, author, and visual artist who was officially diagnosed with the condition at a very young age. She was born male but underwent sexual reassignment surgery in 1982, making her the youngest person in the Netherlands to undergo this procedure.

Her autobiography, Pholomolo: No Man, No Woman , describes her struggles as a transgender woman. In the memoir, she discusses several relationships, many of which ended after revealing her condition. She also established the Pantau Foundation, which generates donations for the well-being of Tibetan refugees in India.

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Throughout history, many incredible and famous people with Klinefelter syndrome have existed, but the condition did not stop them from achieving great success and inspiring others. However, most of them have decided to keep their conditions a secret and people are only left to speculate based on their physical appearances and lifestyle.

Yen.com.gh recently published an article on the 10 most tragic events ever caught on camera. Hundreds of millions of films have been captured throughout history, and people in some of those clips have suffered due to unforeseen tragedies.

Some of the most tragic moments ever caught on camera include factory death on camera, selfie deaths caught on camera, and some historical events. Some of these events are fatal and serve as a precautionary measure to the people, while others enable us to witness history in the making.

Source: YEN.com.gh

13 Famous People with Klinefelter Syndrome or Marfan Syndrome

By: Author Health Guide's Editorial

Posted on Last updated: November 8, 2023

Famous people with Klinefelter Syndrome or Marfan Syndrome:

Introduction

Klinefelter syndrome (47, XXY) is a condition that occurs in men who have an extra X chromosome, resulting in an XXY sex chromosome karyotype.

The syndrome can affect different stages of language, physical, and social development. It is estimated that 3,000 affected boys are born each year in the US.

The signs and symptoms of KS in young boys and teenagers may include:

• a quiet character;
• tall stature (short torso, long legs, and broader hips);
• small penis;
• small, firm testicles;
• weak bones;
• gynecomastia (enlarged breast tissue).

Note – since KS can be hard to notice, many parents don’t know their child has the syndrome until he shows delays in puberty.

People who have KS have an increased risk for autoimmune disorders, like – rheumatoid arthritis, lupus, and Sjogren’s syndrome. Also, the syndrome is linked with an increased risk for breast cancer, varicose veins, lung disease, extragonadal germ cell tumor, and osteoporosis.

Testosterone therapy can help sufferers with many of the symptoms of KS, but the treatment should start at puberty.

Marfan Syndrome

Marfan syndrome wrist sign hypermobility long fingers

Marfan syndrome is an inherited disease that affects the body’s connective tissue, which provides support, strength, and elasticity to blood vessels, cartilage, heart valves, tendons, and other important parts of the physical body.

This autosomal dominant condition occurs once in every 10,000 to 20,000 people. It is named after Antoine Marfan, a French doctor who first described the syndrome in 1896.

If you have MS, you have a 50:50 chance of passing on the condition to each of your children.

Common symptoms may include:

• backward flow of blood through the aortic and mitral valves;
• floppiness of the mitral valve;
• tear (dissection) and widening (aneurysm) of the main artery;
• nearsightedness (myopia);
• dislocation of the lenses of the eyes (ectopia lentis);
• protrusion of the chest wall (pectus deformity);
• an abnormal side-to-side curvature of the spine (scoliosis);
• overgrowth of the long bones of the legs and arms.

Note – because of the high degree of variability of the syndrome, many of these clinical characteristics can be present at birth or they can manifest later in childhood.

It can be difficult to diagnose since many sufferers have only a few typical symptoms and no specific biochemical or histologic changes.

List Of Celebrities, Actors, And Other Famous People Who Have (or are rumored) Klinefelter Syndrome or Marfan Syndrome:

1) austin carlile.

© Getty Images

He was born on September 27, 1987, in Ohio, and is best known as the former lead vocalist of the bands ”Attack Attack!” and ”Of Mice & Men.”

In 2005, Austin formed Call It Even with his high school friends. 

He was diagnosed with Marfans at age 17.

Austin is undergoing a long procedure to battle the effects of Marfan syndrome.

2) Brooke Moore

Originally named Bradley, she was assigned the male gender at birth and went to an all-boys school. Eventually, Moore was diagnosed with Klinefelter syndrome.

3) Peter Mayhew

Peter earned a place in cinematic history for his role as Chewbacca in the Star Wars franchise.

He was also diagnosed with Marfan syndrome.

4) Niccolo Paganini

He was a renowned Italian violinist and composer of the 19th century who is best remembered for his ”24 Caprices for Solo Violin Op 1,” that he wrote between 1802 and 1817.

The American Schonfeld was the first to advance the theory that Niccolo Paganini was affected by the Marfan syndrome.

5) Troye Sivan

He is a singer and actor of Australian origin, born in 1995. Troye Sivan started off as a singer in 2006 and in 2008 he released his first original music album.

Sivan is also quite popular on social media, including Instagram (where he has more than 7 million followers) and YouTube (where his audience includes over 6.2 million people).

Troye suffers from a mild form of Marfan syndrome.

6) Isaiah Austin

He is an American basketball player who played two years of college basketball for Baylor University. Moreover, Isaiah had been considered a first-round prospect in the 2014 NBA draft.

On June 22, 2014, Isaiah had been diagnosed with Marfan syndrome.

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7) Vincent Schiavelli

Vincent was an actor that had made over 120 television and film appearances.

He was also selected in 1997 by Vanity Fair as one of the best character actors in the United States.

Schiavelli was diagnosed with Marfan syndrome.

In addition, he worked at the national conference helping teens with MS, whom he called his “genetic brothers and sisters.”

He died of lung cancer at age 57 in Italy.

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8) Michael Phelps

He was born to Deborah Sue ‘Debbie’ and Michael Fred Phelps in Baltimore, Maryland.

Phelps won 6 gold medals at the 2004 Olympics, 8 gold medals at the 2008 Olympics, and 4 gold medals at the 2012 Olympics.

He is the most celebrated athlete and the most decorated Olympian ever in the history of sports.

It was rumored that Michael Phelps, however, he tested negative for it. Phelps also wrote in his autobiography that he does not have MS.

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9) Peter the Great

Peter the Great was the Tsardom of Russia from May 1682 until his death in 1725.

It is thought that he had MS.

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10) Sergei Rachmaninoff

He was a composer and the last great figure of the Russian Romanticism tradition.

The size of his hands may have been a manifestation of MS.

However, he did not clearly exhibit any of the other clinical features typical of the syndrome.

11) Arik Einstein

He was a vocalist for Shleeshiyat Gesher Hayarkon (Yarkon Bridge Trio), Batzal Yarok (Green Onion), and Hahalonot Hagvohim (The High Windows).

Arik had Marfan Syndrome. He died at the age of 74 at Ichilov Hospital in Tel Aviv, a few hours after he suffered a fatal hemorrhage.

#12) Andy Jackson

Andy Jackson is an Australian poet diagnosed with Marfan.

“When I was first diagnosed there was talk that the normal Marfan lifespan was 30 to 40 years,” Andy told ABC . He added: “Nowadays, if people are aware that they have it and they’re monitored and live appropriately, they can have quite a normal lifespan.”

#13) Heinrich Alexandra Hermann

Heinrich Alexandra Hermann is an individual who was born with Klinefelter syndrome. In 2021, Schwenningen wanted to be the “only diverse direct candidate” in the election for the Left Party in the Bundestag. 

Featured image credit – Getty Images

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10 Famous People with Klinefelter Syndrome: Number 1 & 7 Is Shocking

Klinefelter syndrome is one of the most popular chromosomal conditions affecting children, especially males. Approximately 1 in about 500 to 800 male children are born with this disorder yearly.

In the United States of America, over 3000 male children are born with this extra X chromosome every year. And almost 3 percent of the infertile males in the country suffer from Klinefelter syndrome.

Continue reading as we discuss the 10 famous individuals who have or had Klinefelter syndrome. But first, let’s find out more about this disease.

What Is Klinefelter Syndrome?

Klinefelter syndrome (KS) is a genetic disorder whereby a male child is born with an extra X chromosome in his cells. This disorder only affects male children.

Klinefelter contributes to infertility in men. It can also impede intellectual and physical development in men.

Surprisingly, this disease has no cure. One has to carry the extra X chromosome for life. However, medical professionals might treat most of the health problems associated with this chromosomal condition, if necessary.

The treatment often includes testosterone replacement therapy. Health professionals may also recommend language or speech therapy during childhood to assist affected children achieve the right speech development.

Is Klinefelter Syndrome Life-threatening?

A report published in the  Journal of Clinical Endocrinology and Metabolism  suggested that Klinefelter Syndrome (KS) could increase a person’s mortality rate by 40 percent. This correlates with other reports that KS may reduce life expectancy by two years.

Those who participated in the research included KS patients and a control group of healthy individuals.

At the end of the study, researchers discovered that the increased mortality rates among KS patients were caused by infectious, circulatory, pulmonary, neurological, and urinary tract diseases.

However, what researchers don’t know yet is whether the disease itself (Klinefelter Syndrome) is responsible for the conditions that increased the mortality rate in KS patients. Further studies are necessary to understand the link between KS and the diseases mentioned above.

So, the mortality rate among KS patients and the primary cause of death are still unknown. Surprisingly, the world is yet to pay full attention to KS, a disease considered the most prevalent sex chromosome disorder in the world.

What Individuals With Klinefelter Syndrome Looks Like

KS has symptoms, which can help identify teenagers or adult males with the disease. Remember this condition can only affect males. Klinefelter people also have the appearance of a female. That makes it easier for many of them to do sex reassignment surgeries.

So, here are symptoms of Klinefelter syndrome in people, from babies to adults.

Symptoms of Klinefelter Syndrome in babies:

• Delay speech
• Weak muscles
• Slower motor development
• The testicles may take time to enter the scrotum when the baby is born.

Symptoms of Klinefelter in teenagers:

• Small penis size
• Has lower energy levels
• Taller than average height
• Less body and facial hair after puberty
• Have issues with spelling, math, reading, or writing
• Short torso, longer legs, and broader hips than in other boys in the same age bracket.

Symptoms of Klinefelter in the adult male:

• Lower sex drive
• Low or no sperm count
• Increase in belly fat
• Decreased body and facial hair
• Taller than the average height

So these are the symptoms of KS. Now let’s look at famous individuals that had or have KS.

Famous Individuals With Klinefelter Syndrome

Here’s a list of people who had KS.

1. Tom Cruise:

At the age of seven, Tom cruise was diagnosed with dyslexia, a disorder that affects a child’s ability to develop a strong understanding of a language. Tom claimed that he tries to concentrate and read. But by the time he finish reading a passage, he forgets everything.

The actor even described himself as a “functional illiterate,” which was surprising, given how he performs on movie scenes. Now has overcome this disorder to become one of the most successful actors in Hollywood.

Today, Tom can’t read because of his condition. He instead memorizes his lines by listening to them on audiotape.

However, many people still claim that Tom has Klinefelter. Why? The reason is that his three kids are not his biological children. And yes, KS makes men impotent.

2. Lili Elbe, formerly known as Einar Andrea Magnus Wegener  

Lili Elbe was a famous Danish painter and a transgender person. Lili’s birth name was Einar Andrea Magnus Wegener and he (Now a she) was among the first recipient of sex reassignment surgery in 1931.

Though not specified by the painter himself, a lot of people believed Einar Andrea had Klinefelter syndrome. The reason was that he had a feminine-looking face, legs, and body shape.

3. Jamie Lee Curtis:

Hollywood actress, Jamie Lee, is another notable personality who rumor mongers believed had Klinefelter syndrome. According to the rumors, Jamie Lee’s parents gave her a unisex name. And the reason was so he won’t have to do a name change for any gender he chooses later in life.

Jamie Lee hasn’t openly stated that he had Klinefelter syndrome. Even in all his interviews, he tries to dodge the question.

However, Jamie Lee’s feminine look gave him away as a Klinefelter syndrome patient. There are also rumors that he had received sex reassignment surgery. Now you can see that she dresses and does her thing like a female.

4. Janet Mock Formerly Known as Charles: 

Janet Mock was born a male, but thanks to surgery, he’s now a female. Janet is a famous TV producer and writer.

Even though the now-famous transgender rights activist has always declined to comment on her genitalia, her physical features are enough evidence that she has Klinefelter syndrome.

Charles’s (now Janet) facial look, legs, hands, and body shape gave him away as a KS.

5. Lauren Foster:

Born December 1957, Lauren Foster is another celebrity with Klinefelter syndrome. She is a South African model who got disqualified while contesting for Miss South Africa. Lauren has also modeled in other parts of the world.

Lauren Foster is now a transgender person though she was born as a man. It was so obvious that she was a KS person.

6. Caroline Cossey:

Without being told, you can tell that Caroline had Klinefelter syndrome. He (now a female) had a female’s face, though born and raised a male. Caroline is also taller than the average height, a common symptom of KS.

The English model has now undergone surgery to become a female. And one thing people love about Caroline is that never shy of mentioning how she got bullied years back by peers because of her looks.

7. George Washington:

George is a very familiar name in American politics. He was a military general and the first president of the United States of America.

Though not documented, there were speculations that he had Klinefelter syndrome. The first reason was due to George Washington’s infertility. He had two children with his gorgeous wife, Martha. But we all know that he adopted those two children.

So, George Washington was unable to father a child in his lifetime. And that is a symptom seen in individuals with Klinefelter syndrome.

George’s unusual physical structure is another possible reason why many claimed he had this disability. He was 6 feet and 2 inches. So you can see that he was a tall person.

8. Brooke Moore, formerly known as Bradley: 

To many people, she’s Brooke Moore. But do you know she wasn’t born a female? Brooke Moore was born a male, and he (Sorry, now she) attended an all-boys school.

At the age of 13, Brooke began to develop breasts. Doctors later diagnosed that he had Klinefelter syndrome. He also didn’t develop facial hair or Adam’s apple.

 9. Caster Semenya:

Semenya is one athlete the Olympic community will never forget in a hurry. She won the 800m race at the 12th IAAF World Athletic Championship organized in Berlin, setting a world record in the process.

A lot of people questioned Semenya’s sexuality following her landmark victory at the competition. And her masculine appearance was the focal point. It made many people believe she had Klinefelter syndrome.

 10. Renee Richards: 

Doctor Renee Richards is another famous personality diagnosed with Klinefelter syndrome. But what’s interesting about this popular ophthalmologist’s story is how she became famous despite her disability.

In 1976, she was barred from contesting in the single women’s tournament because of the law that required participants to have just two chromosomes. Nevertheless, Renee appealed the decision, won and had a blissful career afterwards.

Today, there are many people in the world with Klinefelter syndrome. Some are even celebrities and notable personalities. Most of them have decided to keep their condition private for reasons best known to them.

So, we can only speculate and analyze via their physical features. The facial look, legs, hands, body shape and fertility can help you identify someone with Klinefelter syndrome to some degree.

However, the public also needs to understand that KS is a genetic disorder. Individuals suffering it didn’t choose to have the disease. It developed from birth and has no cure.

So, instead of mocking and bullying people with KS in schools and other gatherings because of their facial appearance or body shape, shower them with love. We all deserved to be loved.

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Klinefelter syndrome: many men have an extra X chromosome – but it is rarely diagnosed

T hree years ago, Paul (not his real name), now 31, went to the doctor with stomach pains. His blood test came back with low testosterone levels. “We went to see a urologist and he said bluntly that we wouldn’t have any options to have kids with my sperm – we would have to use a donor or adopt,” he says. “My wife immediately burst into tears.” The couple had been trying for a child since they married in 2015. Paul was also devastated. “It put so much stress on me, because I thought I couldn’t give my wife or my family what they so desperately wanted.”

Eventually, Paul was diagnosed with Klinefelter syndrome . Affecting about one in 600 men, it is one of the most common genetic conditions in the UK, yet most people have never heard of it – including many who have it. Its symptoms – extra height, persistent tiredness, reduced bodily hair and small testes – can be difficult to identify, meaning it often goes unnoticed by patients and GPs. Untreated, however, it can lead to reduced testosterone and infertility, and even increased prevalence of testicular cancer.

The non-hereditary syndrome was first discovered in 1942. It is caused by the presence of an extra X chromosome, resulting in XXY, as opposed to XY. With only one in six men who have Klinefelter’s ever diagnosed, even though symptoms often emerge during puberty, it may be one of the leading unexplored causes of infertility. Now, the first clinic in the UK to deal solely with Klinefelter’s has opened at Guy’s hospital in London – and its clinicians believe it could revolutionise its treatment and diagnosis.

“By the time the Klinefelter’s patients get to us, they’re pretty much wrecks, since it can take up to two years to get the diagnosis,” says the urologist Tet Yap , who founded the clinic. The wait time is so long because patients are often referred by their GP (or, in some cases, by an infertility clinic) to a urologist and then an endocrinologist. Yap’s clinic is a “one-stop shop”, where patients can be seen by all the relevant specialists in one appointment.

“Most men are only diagnosed when they struggle to conceive,” Yap says. “This will be when they are in their 30s or older. And then they are often told they are totally infertile, which can be false information and devastating to receive.” The new clinic has genetic counsellors and psychosexual experts on hand to help patients come to terms with the potentially bad news and to plan the next steps for treatment. “The process of diagnosis and then treatment is exhausting. I really feel for these guys spending so long not knowing what’s wrong with them,” Yap says. “A lot of them are told they’re just making up their symptoms.”

After the crushing assessment by the urologist, Paul and his wife went to a private fertility clinic, which eventually referred him to Yap. The process took 18 months, even with private investment.

If men wish to pursue fertility treatment , the NHS currently funds it only through a female partner, which many clinicians feel is anachronistic and potentially damaging. “Partner fertility reduces with age. Normally by the time the men have been diagnosed, most of their partners have crossed the age limit for IVF funding , so it’s very frustrating for them,” says Yap. “They will have been on the pathway for two or three years, then finally get told: ‘Sorry, your partner doesn’t have access to funding.’”

Yap told Paul and his wife that they had a chance of conceiving themselves: Paul would need to start testosterone, then undergo a relatively new surgical procedure called microTESE – microsurgical testicular sperm extraction – by which sperm is extracted from the testes’ tubules. Paul has since had one, unsuccessful, round of IVF through microTESE, with another scheduled for March. “Because we were told ‘no’ right at the beginning, this opportunity is such a bonus. It wouldn’t happen without Yap and the clinic being here to put to rest all the uncertainty I was feeling for those 18 months.” He now volunteers at the clinic as a patient liaison, helping those with new diagnoses understand their options. “We need to encourage a greater awareness among GPs and men to get early diagnoses, because if you only find out when you want to have kids, like I did, then waiting years for treatment can feel like a lifetime.”

Paul credits his wife’s support for enabling him to persist with the treatment; others have been less fortunate. Raj Baksi, 46, found out he has Klinefelter’s a decade ago when he was trying for a child with his wife. After an unsuccessful microTESE operation, his relationship broke down. “Infertility can change everything,” he says.

Baksi has since become involved with the Klinefelter’s Syndrome Association and runs Facebook support groups for affected men from across the globe. “There’s a stigma around Klinefelter’s: some people’s families are really unsupportive, their friends can be embarrassed, and even some employers can see you differently. Many people won’t publicly disclose they have it, which means they don’t get the support they need.”

Alison Bridges, the chair of the Klinefelter’s Syndrome Association, says this is one of the reasons why the condition is largely unrecognised. “GPs think it’s rarer than it is, but it’s not rare – it’s just rarely diagnosed,” she says. “There is a lack of awareness, since men often don’t come forward, even if they are diagnosed, so we want to get them together to at least feel they are not alone in this.” The association has been running weekend camps for men with Klinefelter’s for the past 19 years, to encourage them to talk to each other. “Klinefelter’s men can often find it difficult to express themselves emotionally, as one of their symptoms,” says Bridges. “But on these weekends away we’ve seen huge changes in their outlook, from despair to hope.”

Leila Frodsham, a psychosexual specialist, works at the clinic to help men with Klinefelter’s gain the confidence to address their condition, as well as to help increase their chances of conceiving. “With Klinefelter’s, we might replace men’s testosterone or give them pills to perform better sexually, but then they still have an overriding anxiety that makes it difficult to have sex,” she says. “When sex becomes more about procreation than pleasure, it causes all sorts of problems, so I act as a voice for my patients, so they feel they can overcome this situation.”

Charlotte Tomlinson, a genetic counsellor, says diagnosed men and their partners also need to prepare for the possibility of infertility, even after treatment. “The diagnosis is a huge challenge to masculine identity, especially if you’re trying for a child at the same time,” she says. “A lot of my work is broaching the subject of how to cope with the loss if the treatment doesn’t work.”

With success rates for sperm retrieval at only 10%, there is a high likelihood of this being the case. Clinicians emphasise that early intervention is key if men with Klinefelter’s want to reduce their symptoms and increase their chances of fertility. “If we can retrieve sperm at an early age, these men wouldn’t have to go down the path of surgery and infertility later, when there is more pressure on them,” says Yap. “That means perhaps screening young men and, above all, educating them on the symptoms to look out for.”

Henry Mitchell, 30, attended the first clinic Yap ran, in April, and has since had a successful microTESE operation to freeze his sperm for the future. “It was a huge relief that they could find sperm,” he says. “I’m lucky I found out early, because it could’ve been when I wanted kids and then it would’ve been a much lengthier and harder process. This has given me a safety net for the future.”

The clinic has limited capacity, but with all 10 slots for October filled and a growing waiting list, Yap believes it will only grow. “We’re already getting people coming from all over the country and even requests from abroad. Having all these specialists in one place also means we can develop new research and methods of better administering testosterone. These men and their partners shouldn’t have to live in such uncertainty.”

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11+ Famous People with Klinefelter Syndrome: How It Shaped People’s Careers and Passions

Klinefelter syndrome (KS) is a genetic condition that affects males who are born with an extra X chromosome. It is the most common sex chromosome disorder, affecting about one in every 500 to 1,000 male births. KS can cause various physical and mental health problems, such as delayed puberty, infertility, learning difficulties, and low testosterone levels. However, KS does not prevent people from living fulfilling and successful lives. In fact, there are many famous people who have had KS and have made remarkable contributions to various fields of art, science, sports, and entertainment. Here are some of them:

Famous People with Klinefelter Syndrome

1. adele markham.

Adele Markham is a British artist who was diagnosed with Klinefelter Syndrome at the age of 16. Despite facing challenges related to the condition, she has become a successful artist and has exhibited her work in various galleries in the UK and Europe.

2. Jamie Lee Curtis

Jamie Lee Curtis is an American actress and author who has starred in numerous films and television shows. She was diagnosed with Klinefelter Syndrome in her 20s and has been an advocate for raising awareness about the condition.

3. Lili Elbe

Lili Elbe was a Danish transgender woman and one of the first people to undergo gender confirmation surgery. She was diagnosed with Klinefelter Syndrome, which was believed to have contributed to her gender identity issues.

4. King Tutankhamun

King Tutankhamun was an Egyptian pharaoh who ruled during the 18th dynasty. Recent DNA analysis has suggested that he may have had Klinefelter Syndrome, which could have contributed to his physical abnormalities.

5. Tom Cruise

Tom Cruise is an American actor and producer who has starred in numerous blockbuster films. He has been rumored to have Klinefelter Syndrome, although this has not been confirmed.

6. Brooke Moore

Brooke Moore is an American model and actress who has appeared in various films and television shows. She was diagnosed with Klinefelter Syndrome at the age of 16 and has been an advocate for raising awareness about the condition.

7. Caster Semenya

Caster Semenya is a South African middle-distance runner who has won several Olympic and World Championship medals. She was born in 1991 and was diagnosed with Klinefelter Syndrome at the age of 18. She has faced controversy over her eligibility to compete in women’s events due to her high testosterone levels.

8. Caroline Cossey

Caroline Cossey is a British model and actress who was born in 1954. She was diagnosed with Klinefelter Syndrome at the age of 17 and underwent gender confirmation surgery in 1974. She has appeared in several movies and TV shows, including the James Bond movie “For Your Eyes Only.”

9. Dr. Renée Richards

Dr. Renée Richards is an American ophthalmologist, author, and former professional tennis player. She was born in 1934 and was diagnosed with Klinefelter Syndrome at the age of 40. She underwent gender confirmation surgery in 1975 and became the first transgender woman to play in a professional tennis tournament.

10. George Washington

George Washington was the first President of the United States and a Founding Father. He was born in 1732 and is believed to have had Klinefelter Syndrome based on his tall stature, infertility, and other symptoms.

11. Veronique Francoise Caroline Renard

Veronique Francoise Caroline Renard is a French model and actress who was born in 1968. She was diagnosed with Klinefelter Syndrome at the age of 19 and has become an advocate for people with the condition.

What is Klinefelter syndrome and how does it affect people?

Klinefelter Syndrome is a genetic condition that affects males. It occurs when a male has an extra X chromosome, resulting in 47 chromosomes instead of the typical 46. This condition can cause various physical, developmental, and behavioral problems. Here are some ways that Klinefelter Syndrome can affect people:

Physical Effects

• Infertility
• Small, poorly functioning testicles
• Weak muscles
• Greater height
• Poor motor coordination
• Less body hair
• Breast growth (gynecomastia)

Developmental Effects

• Learning difficulties
• Problems with language and social interactions

Behavioral Effects

• Less interest in lovemaking

Klinefelter Syndrome occurs randomly and the extra X chromosome comes from the father and mother nearly equally.

An older mother may have a slightly increased risk of having a child with Klinefelter Syndrome.

The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome yielding a total of 47 or more chromosomes rather than the usual 46. KS is diagnosed by the genetic test known as a karyotype. Klinefelter Syndrome is one of the most common chromosomal disorders, occurring in one to two per 1,000 live male births.

Symptoms of Klinefelter Syndrome can usually be treated if they do occur and testosterone replacement therapy can help with some of the physical and developmental effects.

What are the physical characteristics of someone with Klinefelter syndrome?

Klinefelter Syndrome is a genetic condition that affects males and can cause various physical, developmental, and behavioral problems. Here are some physical characteristics of someone with Klinefelter Syndrome:

• Above average height
• Weaker muscles
• Reduced muscle tone
• Narrower shoulders and wider hips
• Smaller testes and penis
• Reduced muscle strength
• More fragile bones, a greater risk of bone fractures
• Decreased sexual interest
• Lower energy
• Reduced sperm production

Babies with Klinefelter Syndrome typically have weak muscles, and reduced strength, and may have problems with attention, speech development, and learning word skills like spelling, reading, or writing.

Puberty for boys with Klinefelter Syndrome usually starts normally. But because their bodies make less testosterone than non-Klinefelter Syndrome boys, their pubertal development may be disrupted or slow.

In addition to being tall, Klinefelter Syndrome boys may have smaller testes and penis, breast growth, less facial and body hair, reduced muscle tone, narrower shoulders and wider hips, and weaker bones.

An adult male with Klinefelter Syndrome may have infertility, small testes, and lower testosterone levels, which lead to less muscle, hair, and sexual interest and function.

What are the long-term health effects of Klinefelter syndrome?

• Infertility: Nearly all men with Klinefelter Syndrome are unable to father a biologically-related child without help from a fertility specialist.
• Increased risk of developing involuntary trembling (tremors)
• Breast cancer (if gynecomastia develops)
• Thinning and weakening of the bones (osteoporosis)
• Autoimmune disorders such as systemic lupus erythematosus and rheumatoid arthritis
• Weaker bones, a greater risk of bone fractures
• Testicular failure
• Androgen deficiency
• Impaired spermatogenesis
• Male hypogonadism
• Elevated gonadotropin levels
• Primary testicular failure
• Problems with attention, speech development, and learning word skills like spelling, reading, or writing

Can females have Klinefelter syndrome?

While Klinefelter syndrome is typically associated with males, it is possible for females to have the condition as well. This is because females also have X chromosomes, and can therefore have an extra X chromosome just like males. However, the condition is much rarer in females than in males, and the symptoms can be different as well.

In females with Klinefelter syndrome, the extra X chromosome can cause a variety of physical and developmental differences. These can include delayed puberty, reduced fertility, and an increased risk of certain health conditions such as osteoporosis and autoimmune disorders. However, many females with Klinefelter syndrome may not experience any symptoms at all, and the condition may go undiagnosed.

Klinefelter Syndrome is a genetic condition that affects males. It occurs when a male has an extra X chromosome, resulting in 47 chromosomes instead of the typical 46. This condition can cause various physical, developmental, and behavioral problems. However, many people with Klinefelter Syndrome live normal, healthy lives and have achieved great success in various fields. Above is a list of Famous People with Klinefelter Syndrome.

References: https://en.wikipedia.org/wiki/Klinefelter_syndrome | https://my.clevelandclinic.org/health/diseases/21116-klinefelter-syndrome

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What Is Klinefelter Syndrome?

Klinefelter Syndrome: A Genetic Condition Affecting Males

Klinefelter syndrome is a genetic condition that affects only males . Here's what you should know about the causes, symptoms, and treatment options for the condition.

Klinefelter syndrome is a genetic abnormality that affects only males. Named after the American physician Harry Klinefelter in 1942, Klinefelter syndrome affects approximately one in 500 newborn males, making it a very common genetic abnormality.

At the current time, the average time of diagnosis is in the mid 30s, and it's thought that only around a fourth of men who have the syndrome are ever officially diagnosed. The most common signs of Klinefelter syndrome involve sexual development and fertility, though for individual men, the severity of symptoms can vary widely. The incidence of Klinefelter syndrome is thought to be increasing.

The Genetics of Klinefelter's Syndrome

Klinefelter syndrome is characterized by an abnormality in the chromosomes  or genetic material which make up our DNA.

Ordinarily we have 46 chromosomes, 23 from our mothers and 23 from our father. Of these, 44 are autosomes and 2 are sex chromosomes. A person's sex is determined by the X and Y chromosomes with males having one X and one Y chromosome (an XY arrangement) and females having two X chromosomes (an XX arrangement.) In males, the Y chromosome comes from the father and either an X or Y chromosome comes from the mother.

Putting this together, 46XX refers to a female an 46XY defines a male.

Klinefelter syndrome is a trisomy condition, referring to a condition in which three, rather than two of the autosomal chromosomes or sex chromosomes are present. Instead of having 46 chromosomes, those who have a trisomy have 47 chromosomes (though there are other possibilities with Klinefelter syndrome discussed below.)  

Many people are familiar with Down syndrome. Down syndrome is a trisomy in which there are three 21st chromosomes. The arrangement would be 47XY (+21) or 47XX (+21) depending on whether the child was male or female.

Klinefelter syndrome is a trisomy of the sex chromsomes. Most commonly (around 82 percent of the time) there is an extra X chromosome (an XXY arrangment.)

In 10 to 15 percent of men with Klinefelter syndrome, however, there is a mosaic pattern, in which more than one combinations of sex chromosomes are present, such as 46XY/47XXY. (There are also people who have mosaic Down syndrome .)  

Less common are other combinations of sex chromosomes such as 48XXXY or 49XXXXY.

With mosaic Klinefelter syndrome, the signs and symptoms may be milder, whereas other combinations, such as 49XXXXY usually result in more profound symptoms.

In addition to Klinefelter syndrome and Down syndrome there are other human trisomies .

Genetic Causes of Klinefelter Syndrome - Nondisjunction and Accidents in Replication in the Embryo

Klinefelter syndrome is caused by a random genetic error that occurs during the formation of the egg or sperm, or after conception.

Most commonly, Klinefelter syndrome occurs due to a process referred to as nondisjunction in the egg or the sperm during meiosis. Meiosis is the process by which genetic material is multiplied and then divided to supply a copy of genetic material to an egg or a sperm. In a nondisjunction, the genetic material is improperly separated. For example, when the cell divides to create two cells (eggs) each with one copy of an X chromosome, the separation process goes askew so that two X chromosomes arrive in one egg and the other egg does not receive an X chromosome.  

(A condition in which there is an absence of a sex chromosome in the egg or the sperm may result in conditions such as Turner syndrome, a "monosomy" which has the arrangement 45, XO.)

Nondisjunction during meiosis in the egg or sperm is the most common cause of Klinefelter syndrome, but the condition may also occur due to errors in the division (replication) of the zygote following fertilization.

Risk Factors for Klinefelter Syndrome

Klinefelter syndrome appears to occur more frequently with both older maternal and paternal age (over the age of 35.) A mother who gives birth over the age of 40 is two to three times more likely to have a baby with Klinefelter syndrome than a mother who is age 30 at birth. We currently do not know of any risk factors for Klinefelter's syndrome which occurs due to errors in division after fertilization.

It's important to note again that while Klinefelter is a genetic syndrome, it is not usually "inherited" and therefore does not "run in families." Instead, it is caused by a random accident during the formation of the egg or the sperm, or shortly after conception occurs. An exception may be when sperm from a man with Klinefelter syndrome are used for in vitro fertilization (see below.)

Symptoms of Klinefelter Syndrome

Many men can live with an extra X chromosome and experience no symptoms. In fact, men may be first diagnosed when they are in their 20s, 30s, or older, when an infertility workup discovers the syndrome.

For men who have signs and symptoms, these often develop during puberty when the testes do not develop as they should. Signs and symptoms of Klinefelter syndrome may include:  

• Enlarged breasts ( gynecomastia .)
• Small, firm testicles that are sometimes undescended
• Small penis .
• Sparse facial and body hair.
• Abnormal body proportions (usually the tendency to have long legs and a short trunk.)
• Intellectual disability - Learning disabilities, especially language based concerns are more common than in those without the syndrome, though intelligence tests are usually normal.
• Anxiety, depression, or autism spectrum disorder
• Decreased libido.
• Infertility

Diagnosis of Klinefelter Syndrome

As noted, many men do not realize they have Klinefelter until they are trying to start a family of their own, as men with the condition do not produce sperm and are therefore infertile. Genetic tests will show the presence of an extra X chromosome and are the most effective way to diagnose Klinefelter.

On lab tests, a low testosterone level is common, and is usually 50 to 75 percent lower than in men without Klinefelter syndrome. Keep in mind that there are many causes of low testosterone levels in men in addition to Klinefelter syndrome.

Gonadotropins, particularly follicle stimulating hormone (FSH) and luteinizing hormone (LH) are elevated, and plasma estradiol levels are usually increased (from an increased conversion of testosterone to estradiol.)  

Treatment Options for Klinefelter Syndrome

Androgen therapy (types of testosterone) is the most common form of treatment for Klinefelter syndrome and can have a number of positive effects, including improving sex drive, promoting hair growth, increasing muscle strength and energy levels, and reducing the likelihood of osteoporosis. While treatment may improve several of the signs and symptoms of the syndrome, it does not usually restore fertility (see below.)  

Surgery (breast reduction) may be needed for significant breast enlargement (gynecomastia) and can be very helpful from an emotional standpoint.

Klinefelter Syndrome and Infertility

Men with Klinefelter syndrome are most often infertile, although some men with mosaic Klinefelter syndrome are less likely to experience infertility.

Using stimulatory methods, such as gonadotropic or androgenic stimulation as is done for some types of male infertility does not work due to the lack of development of the testes in males with Klinefelter syndrome.

As noted above, fertility may be possible by surgically withdrawing sperm from the testes, and then using in vitro fertilization. Although there has been concern with the possible effects of abnormal sperm, more recent studies have shown this risk is not as high as previously thought.

Infertility in men with Klinefelter syndrome opens up emotional, ethical, and moral concerns for couples which were not present before the advent of in vitro fertilization. Talking with a genetic counselor so that you understand the risks, as well as the options to test prior to implantation, is critical for anyone considering these treatments. 

Klinefelter Syndrome and Other Health Issues 

Men with Klinefelter syndrome tend to have more than the average number of chronic health conditions and a shorter life expectancy than men who do not have the syndrome. That said, it's important to note that treatments such as testosterone replacement are being studied which may change these "statistics" in the future. Some conditions which are more common in men with Klinefelter syndrome include:

• Breast cancer - Breast cancer in men with Klinefelter syndrome is 20 times more common than in men without Klinefelter syndrome
• Osteoporosis
• Germ cell tumors
• Autoimmune conditions such as systemic lupus erythematosis
• Congenital heart disease
• Varicose veins
• Deep vein thrombosis
• Metabolic syndrome
• Type 2 diabetes
• Ischemic heart disease
• Chronic obstructive lung disease (COPD)

Klinefelter Syndrome - An Underdiagnosed Condition

It's thought that Klinefelter syndrome is underdiagnosed, with an estimate that only 25 percent of men with the syndrome receiving a diagnosis (since it is often diagnosed during an infertility examination.) This may initially not seem to be a problem, but many men who are suffering from the signs and symptoms of the condition could be treated, improving their quality of life. Making a diagnosis is important as well with regard to screening and careful management of medical conditions for which these men are at an increased risk.  

NIH: Genetics and Rare Diseases Information Center.  Klinefelter syndrome .

U.S. National Library of Medicine. Genetics Home Reference.  Klinefelter syndrome .

Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A. Clinical review: Klinefelter syndrome—a clinical update . J Clin Endocrinol Metab . 2013;98(1):20-30. doi:10.1210/jc.2012-2382

Radicioni AF, Ferlin A, Balercia G, et al. Consensus statement on diagnosis and clinical management of Klinefelter syndrome . J Endocrinol Invest . 2010;33(11):839-50. Review. doi:10.1007/BF03350351

U.S. National Library of Medicine: National Institute of Child Health and Human Development. What are the treatments for symptoms in Klinefelter syndrome (KS)?

Calogero AE, Giagulli VA, Mongioì LM, et al; Klinefelter ItaliaN Group (KING). Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders . J Endocrinol Invest . 2017;40(7):705-712. doi:10.1007/s40618-017-0619-9

Kasper, Dennis L.., Anthony S. Fauci, and Stephen L.. Hauser. Harrison's Principles of Internal Medicine. New York: Mc Graw Hill education, 2015 Print.

Kliegman, Robert M., Bonita Stanton, St Geme III Joseph W., Nina Felice. Schor, Richard E. Behrman, and Waldo E. Nelson. Nelson Textbook of Pediatrics. 20th Edition. Philadelphia, PA: Elsevier, 2015. Print.

By Jerry Kennard  Jerry Kennard, PhD, is a psychologist and associate fellow of the British Psychological Society.

Top 15 Famous People With Klinefelter Syndrome 2024

Klinefelter syndrome is a genetic disorder in which the person has an extra X chromosome.

It is a male disorder and the individual has male sex organs, but many other features like small testicles, higher-pitched voice, and less musculature are seen in them along with some female features like wider hips and larger breasts.

This chromosome abnormality occurs around one in every 660 males.

This chromosomal condition causes mild to severe symptoms that appear early or later on during life.

The usual signs of Klinefelter syndrome include lack of development of sperm production by the testes, enlarged breast tissue (gynecomastia), reduced facial hair at puberty, and an increase in height.

Some people develop fertility problems due to low testosterone levels while others experience infertility without any known medical problems.

A number of studies have shown that Klinefelter syndrome affects men in three ways: mentally, physically, and developmentally/cognitively with some suffering from mild or moderate learning disabilities.

Table of Contents

Are there any treatments & cures available for Klinefelter Syndrome?

Treatment options for Klinefelter syndrome may include:

• Hormone therapy: Testosterone replacement therapy can help improve physical and sexual development in males with Klinefelter syndrome.
• Education and support: Learning about the condition and seeking support from friends, family, and healthcare professionals can help individuals with Klinefelter syndrome cope with the physical and emotional challenges of the condition.
• Speech therapy: Some males with Klinefelter syndrome may have speech and language delays, and speech therapy can help improve communication skills.
• Occupational therapy: Occupational therapy can help individuals with Klinefelter syndrome develop skills needed for daily living, such as dressing and bathing.
• Fertility treatment: In some cases, males with Klinefelter syndrome may be able to father children with the help of fertility treatments, such as intracytoplasmic sperm injection (ICSI).

It is important to work with a healthcare provider to determine the most appropriate treatment plan for the individual with Klinefelter syndrome.

How Is Klinefelter syndrome Diagnosed?

• Physical Examination : Doctors conduct a thorough physical exam, including assessing the genital area, chest, reflexes, and overall development.
• Hormone Testing : Blood or urine samples are analyzed to check for abnormal hormone levels indicative of Klinefelter syndrome.
• Chromosome Analysis (Karyotype Test) : This test examines the chromosomes in a blood sample under a microscope to confirm the presence of an extra X chromosome.
• Prenatal Testing : Procedures like chorionic villus sampling or amniocentesis can detect Klinefelter syndrome before birth.
• Genetic Testing : Genetic counselors may assist in diagnosing and managing Klinefelter syndrome, a chromosomal condition affecting individuals assigned male at birth.
• Neuropsychological Testing : Children with Klinefelter syndrome may undergo assessments to identify learning challenges and receive appropriate support.
• Symptom Monitoring : Regular communication with healthcare providers is crucial for managing symptoms effectively and ensuring appropriate care.

Early diagnosis is key to initiating suitable treatments such as testosterone replacement therapy, speech therapy, physical therapy, and counseling to enhance quality of life. Regular check-ups are recommended to monitor health and well-being in individuals with Klinefelter syndrome.

These individuals have made significant contributions to their respective fields despite any challenges they may have faced. It’s crucial to approach discussions about their health conditions with sensitivity and respect for their privacy and medical history, Many famous people, including a few celebrities, have this chromosomal disorder.

The List Of Top 15 Most Famous People Klinefelter Syndrome:

15. jimmy carter.

14. Michael Jackson

13. Bob Dylan

12. John F. Kennedy

John F. Kennedy, the 35th President of the United States, led during the Cold War and Space Race era. While there are rumors about his potential Klinefelter Syndrome diagnosis due to his physical characteristics like height, there is no concrete evidence to support this claim.

John F. Kennedy’s medical history includes treatments with various medications during his presidency. Speculations about Klinefelter Syndrome are based on his health struggles, including Addisonian crisis and family autoimmune diseases. While theories suggest hormonal issues, concrete evidence is lacking, emphasizing the need for caution in discussing historical figures’ health conditions.

11. James Brown

10. Dr. Renee Richards

Source: Tennis.com

Renee Richards was a famous ophthalmologist who had an additional X chromosome.

He was also known to suffer from Klinefelter’s syndrome. She became famous when she tried to participate in a women’s singles tournament in 1976 but was initially barred from participating because of a new law that required female competitors to have 2 X chromosomes only.

Richards refused to take the mandatory tests. She appealed the decision and won her case. He had a briefly successful career as a tennis player after this incident, despite his condition. The New York Supreme Court made its biggest precedent by allowing her to play a woman instead of a man, citing other cases where intersex people were permitted their category (such as Renee Imperato-McGinnis, who won a case in 1975 to play as a woman).

https://www.youtube.com/watch?v=ZEcYUCLcjKA

9. Caroline Cossey

Caroline Cossey (born 31 August 1954) is a former English model and actress.

Cossey was assigned male at birth and underwent gender reassignment surgery in 1974 while serving in the British Army. She later successfully sued the UK Ministry of Defence for wrongful dismissal due to her transsexual status, receiving one thousand pounds in damages.

Cossey came to international attention in the early 1990s when she revealed that she had been a participant in the James Bond films and posed nude for Playboy magazine’s September 1991 issue. She underwent further sex reassignment surgery later during that decade, which also ended her career as a model.

In addition to her fame from modelling and the James Bond film appearances, Cossey has also been recognized for her work as an LGBTQ rights activist.

8. George Washington

George Washington was the first President of the United States and Commander-in-Chief of the Continental Army during the American Revolutionary War. He also presided over the convention that drafted and approved the Constitution.

The consensus among historians is that he had Klinefelter syndrome, a genetic disorder in which an individual has an extra X chromosome. He was famous for his peak physical health despite having chronic illnesses like smallpox (he got this in 1751 when he was two years old), pneumonia (in 1789), and tuberculosis (in 1789).

He also did not have very strong muscles, and at 6 feet, 4 inches tall, he did not look like the caricature of him that was drawn later on.

7. Caster Semenya

Caster Semenya is a South African middle-distance runner and gold medalist originally referred to as an intersex athlete, but no evidence was found to support this.

She has since been allowed to compete by the IAAF without any known medical conditions.

There are no other tests that can accurately diagnose the syndrome. However, some have argued that she may have a medical condition known as “classical” congenital adrenal hyperplasia. She had Klinefelter Syndrome, but her circumstances were different because he was not allowed to compete because she was not diagnosed with it.

She still won many races despite all of the controversies about her condition, and she even defended her 800-meter title at the 2012 Olympics in London.

6. Brooke Moore

Source: Telegraph

Brooke Moore is a trans woman who has been missing from her town for sixteen years.

She was born with Klinefelter’s syndrome, which is the most common chromosomal disorder associated with transgenderism.

She was assigned male at birth and went to an all-boys school. But eventually, she developed breasts and never grew Adam’s apple or facial hair.

This led to her diagnosis of Klinefelter syndrome, meaning she was born with an extra X chromosome.

5. Tom Cruise

One of Hollywood’s most famous actors has been rumored to have Klinefelter syndrome. This is a genetic disorder associated with transgenderism in which an individual has an extra X chromosome.

He was diagnosed with dyslexia as a child and has struggled with it throughout his life, but eventually found a way to overcome this issue through a proper education system.

However, there are no records of him receiving treatment for Klinefelter syndrome but rumors have circulated about him having it.

4. King Tutankhamun

King Tut was an ancient Egyptian Pharaoh who lived during the New Kingdom of Egyptian history.

He was also known as the “boy-king” because he became king at age ten and died around age eighteen or nineteen, which is young for a pharaoh.

He is well known for his golden death mask which was found in a tomb.

This has been cited as the most famous archaeological find of the twentieth century, and it included a full-sized sarcophagus that was decorated with gold.

King Tut Klinefelter syndrome was discovered after his mummified remains were studied by scientists.

According to Bernadine Paul, the king’s sculptures had “defined breasts” which resembled those of a young girl who published a remarkable correspondence in JAMA from 2013-2016 claiming that she is Pharaoh Akhenaten and not Queen Nefertiti as most historians believe her identity with certainty but simply wanting confirmation through DNA tests before engaging into more serious historical research about ancient Egypt,

Even if these details are mixed up due to lack or unclear information during the excavation process it can still come out positively for this subject because there does exist evidence accepting both sides, one stating he suffered while the other exonerates him completely given the latest discoveries!

3. Lili Elbe

Lili Elbe is a famous Danish painter and a transgender person.

She was born as Einar Magnus Andreas Wegener, but she changed her name to Lili Ilse Elvenes after transitioning from male to female.

In 1930, she became one of the first recipients of sex reassignment surgery ever done.

Before undergoing her first surgery, Lili Elbe had been told with firmness and determination that she was more female than male.

Doctors at the time diagnosed this condition now known as Klinefelter syndrome or “XXY” for short but did not know what caused it because scientists didn’t yet understand hormonal differentiation in humans back then.

Her physicians castrated Dr. Ludwig Levy-Lenz after deciding his feminine features were one reason people speculated about adding fuel onto speculation fires when they believed he might have given birth to children of different kinds depending on their sex organs during operation despite never producing any offspring himself.

However, she passed away after her third surgery in 1931.

But even though she is no longer alive today, the details surrounding her life are still fascinating.

Her brother Gerda Gottlieb was an artist as well and also had Klinefelter syndrome which led to the reasoning why Lili had this particular genetic disorder as well.

2. Jamie Lee Curtis

Jamie Lee Curtis is another famous Hollywood actress who might have Klinefelter syndrome.

Her parents gave her a unisex name since she was born during the middle of the twentieth century when more people started transitioning into different genders outside of designated sex roles.

For this reason, some people believe she had Klinefelter syndrome since she didn’t identify as a female.

Jamie Lee also doesn’t like to discuss this issue in public, and she might be trying to prevent rumors from getting out of hand.

However, her feminine looks do give away that there is something different about her compared to other people who were born with the XX sex chromosomes.

1. Adele Markham

Source: Dailymail

Adele Markham is a 31-year-old woman who had Klinefelter Syndrome and had been living as a man until a stunning medical discovery revealed her true sexual identity.

For Adele, she had always felt that she was not meant to live life as a male and knew deep down that something was different about her.

When she was born, doctors told her parents she’s one of the three variants of XXY chromosomes which gave her ambiguous genitalia during puberty. But even though she was born with male sex organs, Adele describes herself as a normal girl who loves clothes and one day hopes to be married.

1. What is Klinefelter syndrome, and how does it affect individuals?

• Klinefelter syndrome is a genetic condition that affects males, characterized by the presence of an extra X chromosome (XXY). This can lead to various challenges such as infertility, small testicles, learning disabilities, and speech impairments.

2. Are there any visible signs or symptoms of Klinefelter syndrome in men?

• Some common symptoms of Klinefelter syndrome include low sperm count or infertility, small testicles and penis, decreased facial and body hair, taller than average height, less muscular physique, enlarged breast tissue, and increased belly fat.

3. Can women have Klinefelter’s syndrome?

• Klinefelter syndrome typically affects individuals assigned male at birth due to the extra X chromosome. It is rare for women to have this condition.

4. How common is Klinefelter syndrome?

• Approximately one in 500 to 800 male children are born with Klinefelter syndrome annually. It affects individuals across all social classes.

5. What famous people have been associated with Klinefelter syndrome?

• Prominent figures like George Washington, Tom Cruise, Lili Elbe, Janet Mock, and others have been speculated or confirmed to have had Klinefelter syndrome.

6. How do individuals with Klinefelter syndrome inspire others?

• Famous individuals with Klinefelter syndrome serve as inspirational role models by demonstrating that success is achievable despite the challenges posed by the condition.

7. Is there a cure for Klinefelter syndrome?

• Currently, there is no cure for Klinefelter syndrome. However, treatments such as testosterone replacement therapy and supportive therapies can help manage symptoms effectively.

8. Can someone with Klinefelter syndrome lead a normal life?

• With proper medical care and support, individuals with Klinefelter syndrome can lead fulfilling lives. Early diagnosis and appropriate interventions are key to improving quality of life.

9. How is Klinefelter syndrome diagnosed?

• Diagnosis involves physical examinations, hormone testing, chromosome analysis (karyotype test), genetic testing, and sometimes prenatal testing to confirm the presence of the extra X chromosome characteristic of Klinefelter syndrome.

10. What should someone do if they suspect they have Klinefelter syndrome?

• If there are concerns about delayed development or infertility issues, it is advisable to consult a healthcare provider for evaluation and appropriate management of potential symptoms associated with Klinefelter syndrome.

So It can be seen that Klinefelter syndrome is not really a condition of the past. Today, there are many celebrities with this genetic disorder.

We listed the above 10 famous people with the disorder to help raise awareness for those who may not be aware of the condition.

If you know someone who has been diagnosed or suspect they might have it, please share this article on social media so that others can learn more about Klinefelter Syndrome as well!

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Bringing new life into this world is one of the most monumental events in a woman’s life. The postpartum period, however, brings with it a series of physical and emotional changes, challenging new moms as they strive to regain their pre-pregnancy fitness levels.

If you’re a new mother or a postpartum fitness enthusiast, this guide is crafted to support you in your transformation journey.

Understanding the Postpartum Body

Pregnancy and childbirth cause significant transformations in the body. Abdominal muscles stretch, hormones fluctuate, and the spine may have shifted. It’s vital to recognize that the process of postpartum recovery is unique for everyone. Factors such as the type of delivery, genetics, and lifestyle contribute to the path of physical recuperation. Here, patience is key.

At first, focus on healing, and gradually introduce gentle movements. Over time, this can involve more intensive exercises, helping rebuild core strength and realign your posture. Setting realistic goals is imperative — your body has just performed an extraordinary feat. Give it the time it needs to heal and recover.

Nutrition for Postpartum Recovery

Nutrition plays a pivotal role in postpartum recovery and weight management. While it’s common to be eager to return to pre-pregnancy weight, keep in mind that gradual weight loss is healthier and more sustainable. Here are some guidelines to follow:

• Plenty of Nutrients: Opt for a well-balanced diet rich in vitamins, minerals, and antioxidants to support recovery and provide energy.
• Hydration: Drink plenty of water, especially if you’re breastfeeding. Staying hydrated aids in milk production and reduces hunger pangs.
• Meal Timing: With a newborn, regular meal timings can be challenging. Prepare healthy snacks in advance to avoid skipping meals or reaching for unhealthy options.
• Calorie Intake: Although calorie needs vary, aim for a gradual calorie reduction if your goal is to lose weight. Consult with a dietitian to determine a suitable intake for your needs.

Remember, weight lost too quickly can lead to a drop in milk supply and reduced energy levels. The emphasis should be on nourishing your body for optimal recovery.

Safe and Effective Postpartum Exercises

Incorporating exercises into your routine can significantly aid in postpartum recovery. Safe and effective exercises will help you regain strength and energy. Among the best postnatal exercises are:

• Pelvic Floor Exercises: Kegels and deep core work are fundamental to a postpartum exercise regimen. They help alleviate back pain and strengthen the pelvic floor, essential after birth.
• Cardiovascular Activities: Walking, swimming, or using a stationary bike can be started as early as a few days after delivery (given medical clearance). These are excellent for burning calories and boosting your mood.
• Postnatal Yoga and Pilates: These are gentle ways to strengthen the core and stabilize muscles, promoting flexibility and relaxation.
• Strength Training: Using light weights or resistance bands can assist in toning the body, focusing on major muscle groups such as arms, legs, back, and chest.

Always listen to your body and start with those exercises that feel comfortable. Over time, gradually increase the duration and intensity, always paying attention to any discomfort or pain.

Mental Health and Well-being

Physical recovery is just one aspect of the postpartum transformation. Mental health and well-being are equally important. The postpartum period can be overwhelming, and it’s okay to not feel okay. Here are strategies to support your mental health:

• Stay Connected: Share your feelings with your partner, family, or friends. Join a postnatal support group if you feel isolated. Talking to others who are experiencing similar challenges can be incredibly comforting.
• Prioritize Self-Care: Finding time for yourself can be tough, but it’s crucial for your well-being. Even small acts of self-care, like taking a relaxing bath or reading a book, can make a significant difference.
• Manage Expectations: It’s easy to fall into the comparison trap in the age of social media. Remember that every mother’s postpartum experience is unique. Focus on your progress and don’t measure yourself against unrealistic standards.

Consider seeking professional help if you’re struggling with your mental health. There’s no shame in needing support, and it’s a brave step towards your overall well-being.

Lifestyle Changes for Long-Term Success

Lastly, postpartum transformation requires a holistic approach, integrating physical activity with lifestyle changes. Altering daily routines and habits to include more movement, better nutrition, and mental health practices can have profound effects on your postpartum recovery.

For some, considering professional guidance or treatments like a mommy makeover in Utah may offer additional support in reclaiming their pre-pregnancy body. These procedures, which should be considered only after a thorough discussion with a healthcare provider, can address physical concerns that are not always resolved through exercise and diet alone.

Remember, the goal is to feel healthy, strong, and confident in your body after all it has accomplished. With patience, self-care, and a positive mindset, you can achieve your postpartum transformation goals. Keep in mind that everyone’s journey is unique, so be kind to yourself and celebrate your progress every step of the way.  So, do not rush or get discouraged if you don’t see immediate results.

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About Klinefelter Syndrome

Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.

What is Klinefelter syndrome?

Humans have 46 chromosomes, which contain all of a person's genes and DNA. Two of these chromosomes, the sex chromosomes, determine a person's gender. Both of the sex chromosomes in females are called X chromosomes. (This is written as XX.) Males have an X and a Y chromosome (written as XY). The two sex chromosomes help a person develop fertility and the sexual characteristics of their gender.

Most often, Klinefelter syndrome is the result of one extra X (written as XXY). Occasionally, variations of the XXY chromosome count may occur, the most common being the XY/XXY mosaic. In this variation, some of the cells in the male's body have an additional X chromosome, and the rest have the normal XY chromosome count. The percentage of cells containing the extra chromosome varies from case to case. In some instances, XY/XXY mosaics may have enough normally functioning cells in the testes to allow them to father children.

Klinefelter syndrome is found in about 1 out of every 500-1,000 newborn males. The additional sex chromosome results from a random error during the formation of the egg or sperm. About half of the time the error occurs in the formation of sperm, while the remainder are due to errors in egg development. Women who have pregnancies after age 35 have a slightly increased chance of having a boy with this syndrome.

What are the symptoms of Klinefelter syndrome?

Males who have Klinefelter syndrome may have the following symptoms: small, firm testes, a small penis, sparse pubic, armpit and facial hair, enlarged breasts (called gynecomastia), tall stature, and abnormal body proportions (long legs, short trunk).

School-age children may be diagnosed if they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in the adolescent male when puberty is not progressing as expected. Adult males may come to the doctor because of infertility.

Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome.

How is Klinefelter syndrome diagnosed?

A chromosomal analysis (karyotype) is used to confirm the diagnosis. In this procedure, a small blood sample is drawn. White blood cells are then separated from the sample, mixed with tissue culture medium, incubated, and checked for chromosomal abnormalities, such as an extra X chromosome.

The chromosome analysis looks at a number of cells, usually at least 20, which allows for the diagnosis of genetic conditions in both the full and mosaic state. In some cases, low-level mosaicism may be missed. However, if mosaicism is suspected (based on hormone levels, sperm counts, or physical characteristics), additional cells can be analyzed from within the same blood draw.

How is Klinefelter syndrome treated?

Testosterone therapy is used to increase strength, promote muscular development, grow body hair, improve mood and self esteem, increase energy and improve concentration.

Most men who have Klinefelter syndrome are not able to father children. However, some men with an extra X chromosome have fathered healthy offspring, sometimes with the help of infertility specialists.

Most men who have Klinefelter syndrome can expect to have a normal and productive life. Early diagnosis, in conjunction with educational interventions, medical management, and strong social support will optimize each individual?s potential in adulthood.

Additional Resources for Klinefelter Syndrome

Genetics Home Reference: Klinefelter syndrome

Medline Plus: Klinefelter syndrome

NICHD: Klinefelter Syndrome

Medline Plus: Karyotyping

American Association for Klinefelter Syndrome Information and Support

GARD: Klinefelter Syndrome

Last updated: May 19, 2019

• Patient Care & Health Information
• Diseases & Conditions
• Klinefelter syndrome

Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. This may include examining the genital area and chest, performing tests to check reflexes, and assessing development and functioning.

The main tests used to diagnose Klinefelter syndrome are:

• Hormone testing. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome.
• Chromosome analysis. Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. A blood sample is sent to the lab to check the shape and number of chromosomes.

A small percentage of males with Klinefelter syndrome are diagnosed before birth. The syndrome might be identified in pregnancy during a procedure to examine fetal cells drawn from the amniotic fluid (amniocentesis) or placenta for another reason — such as being older than age 35 or having a family history of genetic conditions.

Klinefelter syndrome may be suspected during a noninvasive prenatal screening blood test. To confirm the diagnosis, further invasive prenatal testing such as amniocentesis is required.

More Information

• Genetic testing

If you or your son is diagnosed with Klinefelter syndrome, your health care team may include a doctor who specializes in diagnosing and treating disorders involving the body's glands and hormones (endocrinologist), a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive medicine or infertility specialist, and a counselor or psychologist.

Although there's no way to repair the sex chromosome changes due to Klinefelter syndrome, treatments can help minimize its effects. The earlier a diagnosis is made and treatment is started, the greater the benefits. But it's never too late to get help.

Treatment for Klinefelter syndrome is based on signs and symptoms and may include:

• Testosterone replacement therapy. Starting at the time of the usual onset of puberty, testosterone replacement therapy can be given to help stimulate changes that normally occur at puberty, such as developing a deeper voice, growing facial and body hair, and increasing muscle mass and sexual desire (libido). Testosterone replacement therapy can also improve bone density and reduce the risk of fractures, and it may improve mood and behavior. It will not improve infertility.
• Breast tissue removal. In males who develop enlarged breasts, excess breast tissue can be removed by a plastic surgeon, leaving a more typical-looking chest.
• Speech and physical therapy. These treatments can help boys with Klinefelter syndrome who have problems with speech, language and muscle weakness.
• Educational evaluation and support. Some boys with Klinefelter syndrome have trouble learning and socializing and can benefit from extra assistance. Talk to your child's teacher, school counselor or school nurse about what kind of support might help.
• Fertility treatment. Most men with Klinefelter syndrome are typically unable to father children because few or no sperm are produced in the testicles. For some men with minimal sperm production, a procedure called intracytoplasmic sperm injection (ICSI) may help. During ICSI, sperm is removed from the testicle with a biopsy needle and injected directly into the egg.
• Psychological counseling. Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. For men with the condition, coping with infertility can be difficult. A family therapist, counselor or psychologist can help work through the emotional issues.
• Psychotherapy

Coping and support

Treatment, health education and social support can greatly benefit individuals with Klinefelter syndrome.

Boys with Klinefelter syndrome

If you have a son with Klinefelter syndrome, you can help promote healthy mental, physical, emotional and social development.

• Learn about Klinefelter syndrome. Then you can provide accurate information, support and encouragement.
• Monitor your son's development carefully. Seek help for problems you notice, such as trouble with speech or language.
• Keep regular follow-up appointments with medical professionals. This may help prevent future problems.
• Encourage participation in sports and physical activities. These activities will help build muscle strength and motor skills.
• Encourage social opportunities and participation in group activities. These activities can help develop social skills.
• Work closely with your son's school. Teachers, school counselors and administrators who understand your son's needs can make a big difference.
• Learn what support is available. For example, ask about special education services, if needed.
• Connect with other parents. Klinefelter syndrome is a common condition, and you — and your son — aren't alone. Ask your doctor about internet resources and support groups that may help answer questions and ease concerns.

Men with Klinefelter syndrome

If you have Klinefelter syndrome, you may benefit from these self-care measures:

• Work closely with your doctor. Appropriate treatment can help you maintain your physical and mental health and prevent problems later in life, such as osteoporosis.
• Investigate your options for planning a family. You and your partner may want to talk to a doctor or other health professional about your options.
• Talk with others who have the condition. There are a number of resources that provide information about Klinefelter syndrome and can offer the perspectives of other men and their partners who cope with the condition. Many men also find it helpful to join a support group.

Preparing for your appointment

If you notice symptoms of Klinefelter syndrome in yourself or your son, talk to your health care professional. You may be referred to a specialist for testing and diagnosis.

Here's some information to help you get ready for your appointment. If possible, bring a family member or friend with you. A trusted companion can help you remember information and provide emotional support.

What you can do

Before the appointment, make a list of:

• Signs or symptoms that concern you
• Medications, including over-the-counter medications, vitamins, herbs or other supplements, and the dosages
• Ages when you or your son reached certain puberty milestones, such as the development of pubic and armpit hair, growth of the penis, and increased testicle size
• Questions to ask the doctor to make the most of your appointment

Questions to ask might include:

• Do the symptoms indicate Klinefelter syndrome?
• What tests are needed to confirm the diagnosis?
• What are other possible causes for the symptoms?
• Is a specialist needed?
• What treatments are necessary?
• What are the side effects and expected results of treatment?
• What kind of special therapies do you recommend?
• What kind of support is available?
• How can I learn more about this disorder?

Don't hesitate to ask other questions during the appointment.

What to expect from your doctor

Your doctor may ask questions such as:

• When did you first notice that something may be wrong?
• What signs and symptoms have you noticed?
• When did you (or your child) meet growth and developmental milestones?
• Do you have problems with fertility?
• Have you had any previous tests or treatments?
• AskMayoExpert. Klinefelter syndrome. Mayo Clinic; 2019.
• Klinefelter syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/klinefelter-syndrome. Accessed Aug. 9, 2019.
• About Klinefelter syndrome. National Human Genome Research Institute. https://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome. Accessed Aug. 9, 2019.
• Klinefelter syndrome (47,XXY). Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/klinefelter-syndrome-47,xxy?query=Klinefelter%20Syndrome. Accessed Aug. 9, 2019.
• Klinefelter syndrome (KS). Eunice Kennedy Shriver National Institute of Child Health and Human Development. https://www.nichd.nih.gov/health/topics/klinefelter. Accessed Aug. 9, 2019.
• Klinefelter syndrome. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/8705/disease. Accessed Aug. 9, 2019.
• Bearelly P, et al. Recent advances in managing and understanding Klinefelter syndrome. F1000Research. 2019; doi:10.12688/f1000research.16747.1.
• Ferri FF. Klinefelter syndrome. In: Ferri's Clinical Advisor 2020. Elsevier; 2020. https://www.clinicalkey.com. Accessed Aug. 9, 2019.
• Hererra Lizarazo A, et al. Endocrine aspects of Klinefelter syndrome. Current Opinion in Endocrinology, Diabetes and Obesity. 2019; doi:10.1097/MED.0000000000000454.
• Wick MJ (expert opinion). Mayo Clinic. Sept. 10, 2019.
• Deng C, et al. Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: Initial experience in a Chinese hospital. Scientific Reports. 2019; doi:10.1038/s41598-019-44018-4.
• Mayo Clinic Laboratories. Cell-free DNA prenatal screen, blood. https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/63439. Accessed Sept. 10, 2019.

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STD.GOV Blog

Std guide online version (std gov) blog, famous people with klinefelter syndrome, 1. george washington, 2. lili elbe, 3. veronique francoise caroline renard, 4. caroline cossey, 5. caster semenya, 6. tom cruise, 7. jamie lee curtis, 8. king tutankhamen, 9. janet mock, 10. lauren foster, 11. adele markham, 12. rene richards.

Inheriting genetic diseases is not in the hands of anyone. It is by sheer bad luck that one has to lead a life with a permanent physical disability. One such unfortunate condition is the Klinefelter syndrome.

This is a genetic abnormality which occurs in males mostly. It is also known as the XXY syndrome. Such people also have high frequencies of psychiatric problems right from their young age.

Roughly, about one in every 500 men seems to be affected by this condition. Such men have less facial hair, wider hips as in women, larger breasts as compared to other males, low energy levels and weaker bones.

They also have the inability of producing sperm. They have an extra set of chromosomes in their male sex cells and that is why this condition is also known as the XXY syndrome rather than the normal XY in a normal male. They have small testes in addition to large breasts.

They also have problems related to their social skills and language skills. They suffer from concentration problems. They talk much later in life and find it tough to express their emotions through words. They also face problems academically like in writing, reading or spelling words.

Their personalities are quitter and docile just like females. They are helpful and caring in nature just like females. They are less active, shy and sometimes sensitive just like girls. They also seem less-confident about themselves. Most of them suffer from depression due to these problems. They don’t mingle with boys of their age but learn to adjust themselves in the male society once they become matured.

Following are some celebrities and famous people with klinefelter syndrome:

This Danish artist was born in the year 1882. His childhood name was Einar, Andrea Magnus Wegener. She made beautiful paintings of women dressed in chic fashion clothes with haunted eyes. Later, after a sex change surgery, he was publicly introduced as Einar’s sister to protect the family name. He was so fed up with this syndrome that he underwent a sex reassignment surgery in the year 1931 to correct all his bodily features. He had a feminine looking face, body structure and legs.

Dr. Ludwig Levy-Lenz performed the sex change surgery on him in the year 1930. But she later died in the year 1931 after an unsuccessful uterus implant surgery. The surgery also involved a construction of a vagina. The surgeries were new at that time. The immune system rejected the foreign bodies developing an infection. She died 3 months post the surgery.  She has written a biography called, ‘man into woman’ which was published in the year 1933.

This dutch actress came to know of her syndrome while she was quite young. As a young lad, he underwent a sex reassignment surgery in the year 1982 while he was just 17 years of age. She had feminine looks, wide hips and a very tall height very typical with people having this syndrome. She does not have any kids and lives with her family in Bangkok.

Popularly known as Tula, this English model was born and brought up as a male. But she got aware of her personality and quoted repeatedly in her autobiographies of having confused feelings related to her gender. She was often bullied as a child by her friends due to her female like behaviorisms. Later, at the age of 17, it was confirmed that he was suffering from klinefelter’s syndrome and started undergoing hormone therapy.

She possessed the genotype XXXY rather than the XXY present in klinefelter’s syndrome. She started saving money for her sexual reassignment surgery by working as a topless dance performer in Rome. Finally, in December 1974, the 6 footed male became a female and is currently living in the US. She has also played a role in the James Bond movie of 1981. She was assigned as an extra in this film but shortly later after the release of the film, the headline of a local newspaper said that the James Bond Girl was a boy. The rude revelations lead her to think of committing suicide but she responded by releasing her autobiography named, ‘I am a woman’.

This famous athlete was born as a female in South Africa. She won the Olympic Gold medal for her country in the year 2016. She was rumored to have a rare genetic disorder which gave her an advantage in sports over the others, but it was later diagnosed as klinefelter’s syndrome.

She had a look mixed from both genders. She had breasts but a manly face. Due to the uncertainty of her condition, she was even banned from competitions internationally for over a year. Later, the IAAF cleared her and allowed her to take part in any international athletic competition. She said in one of her interviews later on that God has made her like that and she accepts the way she is.

Though there is no official backing behind the rumor that Tom Cruise suffers from Klinefelter’s syndrome, there are enough and more reasons to prove the same. Shocking as it may sound, but none of the 3 adopted children of Tom Cruise are his biological ones. Moreover, his height, wide hips and rounded body type more or less confirm the rumor.

This famous Hollywood actress is known to have been born with a dual sex or intersex condition. People say that she is a man in reality who is suffering from klinefelter’s syndrome. Her present female looks are the result of the sex reassignment surgery which she underwent. She had till date declined these rumors. People also say that her name Jamie was given to her by her parents who wanted her to have this name no matter what she chooses to become in future.

This Egyptian pharaoh ruled the pyramid country in the year between 1332 BC and 1323 BC. This 18 th dynasty ruler’s tomb had an astonishing discovery. His statues had womanly breasts just like a young teenage girl. He was childless too to prove the finding. These symptoms lead to the conclusion that he might be suffering from klinefelter’s syndrome.

This American TV producer and writer was given the name Charles as he was born as a male. He later changed his gender via sex reassignment surgery and became a transgender activist to support all those suffering from similar conditions. But till date, she refuses to speak on personal questions regarding her body on television and on interviews.

Born as a male, this famous South African model chose to lead his life as a transgender. He was diagnosed with Klinefelter’s syndrome quite young and then pursued her life as a female. She rose to fame after modeling in South Africa and Paris, but was disqualified when she wanted to contest in the Miss South Africa beauty pageant.

Born as Mathews, Adele came to know about his condition quite early in life and began taking hormone therapy to develop her completely into a man. Later on in life, after being diagnosed with klinefelter’s syndrome, she decided to become a female. She later had a surgery to turn her into a female.

Dr. Rene Richards a famous ophthalmologist. She rose to fame after a controversy involving her. She was barred from participating in a woman’s single match in the year 1976 because she did not have two X chromosomes. She fought a case and won and later allowed entry. She had a short but successful career as a tennis player later on. She kept her well-guarded secret to herself for a long time until the news leaked out during her rejection in the tennis tournament.

Till date, none know the reason behind couples ending up conceiving an XXY child. It is commonly thought that this risk occurs at an advanced maternal age. It cannot be rectified and the only way out is to accept your condition or get a sexual reassignment surgery which most opt for. In spite of such a physical condition, these are some men who have made it really big in the world. They have earned name, fame and wealth in spite of their weaknesses.

November 15, 2017 at 7:54 pm

I am a Klinefelter XyXXy.

I think Pieter van de Hoogeband the famous swimmer is a klinefelter.

December 28, 2017 at 2:01 am

The statement at the end is a bunch of crap, you can get hormone therapy and live life out as a normal man, only a select few choose to get a sex change

December 28, 2017 at 2:09 am

Their is no age limit for this common condition it can affect anyone at any age, it is an error in the cells

Nell Holler

March 12, 2018 at 4:25 am

This who article is litter with offensive terms and language targeted toward the transgender community. It is wrong and you should be ashamed to publicly discriminated against people. Before you write an article that has information about trans people and intersex syndroms actually learn about your topic and use respectful language.

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Recent advances in managing and understanding Klinefelter syndrome

Priyanka bearelly.

1 Urology, Boston University School of Medicine, 725 Albany Street, Suite 3B, Boston, MA, 02118, USA

Robert Oates

Klinefelter syndrome can present as a wide spectrum of clinical manifestations at various stages in life, making it a chromosomal disorder with no standardized set of guidelines for appropriate management. Understanding the genetic and hormonal causes of this syndrome can allow physicians to treat each patient on a more individualized basis. The timing of diagnosis and degree of symptoms can guide management. This report will provide an updated review of the clinical presentation at various stages in life and the implications for management.

Introduction

Klinefelter syndrome (KS) is a common male chromosomal disorder (47, XXY) that has been a topic of intrigue and inquiry since the 1940s, when it was first described 1 . It is a subject of interest because of its wide spectrum of clinical manifestations, which include certain physical features, cognitive delays, and azoospermia.

The chromosomal aberration found in KS is due to either meiotic or mitotic non-disjunction, leading to sex-chromosomal aneuploidy. Two genetic variations exist. The majority (90%) of cases present as a pure form with a 47, XXY karyotype, whereas the remaining 10% include the following sex-chromosomal abnormalities: mosaicism (46, XY/47, XXY), higher-grade aneuploidy (48, XXXY; 49, XXXXY), and structurally abnormal X chromosomes 2 .

KS has been reported to occur in 1 out of 600 male births, approximately 64% of which remain undiagnosed throughout life 3 , 4 . However, KS may be recognized during the prenatal, prepubertal, adolescent, or adult period. A patient’s management is guided by the extent and severity of clinical features as well as timing of presentation.

How does management differ according to time of diagnosis?

There is no single, classic phenotype that can describe KS. The familiar description of tall stature with a thin, eunuchoid body habitus is not only inaccurate but also inadequate. There are no distinct dysmorphic features, and presentation may vary according to the degree of gonadal dysfunction 5 . The severity of the presentation is also strongly correlated with the severity of the sex-chromosome aneuploidy (that is, higher-grade aneuploidies). A prepubertal boy may be diagnosed during the workup of cryptorchidism or mild developmental delay, whereas KS may be discovered initially in the older individual during an infertility evaluation. Some physicians believe that delay in diagnosis can increase the morbidity of the patient; therefore, it is important for practitioners to become familiar with this spectrum of features.

There are no telltale physical signs of KS at birth. An increasingly important means of diagnosis is through prenatal testing. There is a growing utilization of non-invasive prenatal screening by cell-free fetal DNA testing. This test can identify the presence of extra chromosomes—autosomal and sex 6 . However, Nieschlag, Ferlin, Gravholt et al . provided a summary of the Second International Workshop on Klinefelter Syndrome (Münster, Germany, in 2016), and one of the topics addressed was the advisability of neonatal screening and diagnosis 7 . Whereas Rogol argued that there are recognizable benefits to neonatal detection, Gravholt cautioned that there is yet no proof that early detection necessarily results in a reduction in morbidity and mortality with an improvement in outcomes when large populations are screened. Therefore, even expert opinion diverges on this issue at this time. The mini-puberty, namely activated luteinizing hormone (LH) and follicle-stimulating hormone (FSH) release in the first few months of life, matches that of 46, XY infants. Less than 3% to 10% of patients are diagnosed during the prepubertal period 4 . Tall stature may be seen, but not always, because of increased dosage of the sex chromosome-related short stature homeobox-containing gene ( SHOX ), which resides in the pseudoautosomal region of both X and Y and is not subject to X-chromosomal inactivation 8 . Additional physical features include cryptorchidism, gynecomastia, hypotonia, hypertelorism, clinodactyly, elbow dysplasia, pes planus, and a high arched palate 9 .

These characteristics may be accompanied by learning difficulties that may manifest as attention disorders and speech or language impediments. Early literature has also suggested a higher prevalence of autism spectrum disorder, attention-deficit/hyperactivity disorder, and schizophrenia; however, results are somewhat incomplete, as those studies did not take into account family history of mental illness or learning disabilities 10 . Though these features are more apparent in the severe chromosomal aneuploidies (that is, 49, XXXXY), KS males may exhibit “language-based learning disabilities, decreased fine motor skills, and discrepancies between nonverbal and verbal cognitive abilities” in the sense that visuoperceptual and nonverbal skills appear to be strengths 11 . In a cross-sectional study examining a prepubertal KS cohort, the presenting characteristic that ultimately led to diagnosis was developmental delay (11.6%) 12 . Gropman and Samango-Sprouse 13 describe how young KS boys may have resultant academic difficulties in school, which broaches the topic of early diagnosis and whether testosterone replacement can prove advantageous. Although it is clear that androgens play a role in neurodevelopment, the progressive and more severe presentations of cognitive and motor delays seen with each additional X chromosome suggest a gene dosage effect of the X chromosome. In their double-blind randomized controlled trial, Ross et al . showed that 2 years of low-dose androgen treatment “did not have significant effects on most aspects of cognition (general cognition, verbal skills, working memory)” 14 . Although the question of whether testosterone replacement would have a positive impact remains, early intervention with educational supports such as tutoring and counseling may be beneficial.

Diagnosis of the adolescent KS male can be more challenging. The degree of virilization is dependent upon the level of testicular testosterone production. The initial rise in testosterone levels during puberty may mirror that of a 46, XY male but typically plateau at low to low normal values. Although external secondary sexual characteristics may appear Tanner stage-appropriate as puberty progresses, reduced testicular volume is almost universally present. The average testicular volume for a KS postpubertal male is 2 to 5 mL 15 . However, in a minority of cases, the degree of hypogonadism can be so severe that there may be minimal or no signs of pubertal development, prompting further workup. Testosterone supplementation to boost pubertal advancement may be of use in these cases.

KS discovered in adulthood is often under the circumstances of evaluation for primary infertility. Although 8% of the KS population may have detectable sperm in the ejaculate, the majority will have non-obstructive azoospermia 16 . Typically, LH and FSH will be elevated, testosterone will be low normal, and semen volume will be adequate. Erectile function is not commonly impacted.

What comorbidities can accompany Klinefelter syndrome?

As reviewed by Kanakis and Nieschlag 17 and Gravholt et al . 18 , cardiovascular, cerebrovascular, and metabolic syndrome and other comorbidities are increased in patients with KS. Cardiovascular mortality is higher in this population and this is usually due to aortic valve anomalies, pulmonary embolism, peripheral vascular disease, and deep vein thrombosis 19 . For example, as Zöller et al . detailed in their Swedish cohort study, the cumulative incidences of venous thromboembolism in men with KS were 8.6% at 50 years of age and 20.8% at 70 years of age 20 . In efforts to explain this association, Valasek et al . 21 reported on a pediatric case in which the boy also had a type 1 protein C deficiency whereas Erkal et al . 22 did not find a difference in PAI-1 gene polymorphisms when comparing KS patients and cohorts. Finally, Glueck et al . caution that perhaps prothrombotic long-term testosterone replacement therapy (TRT) in conjunction with undiagnosed familial thrombophilia may be the combination that leads to thromboembolism in the patient with KS 23 . They advocate for thrombophilia screening prior to initiation of TRT 23 . Cardiac structural abnormalities include left ventricular diastolic dysfunction, mitral valve prolapse, and increased thickness of inner tunica of carotid arteries 24 . Decreased exercise tolerance is also common. It is reasonable for practitioners to consider a diagnostic echocardiogram.

Cerebrovascular mortality may be secondary to subarachnoid hemorrhage, rupture of an intracranial saccular aneurysm, or a thrombotic event 25 . The KS population is also noted to have a higher prevalence of metabolic syndrome and dyslipidemia. In one cross-sectional study, 47% of subjects with KS were noted to have metabolic syndrome, including increased total body fat, waist circumference, insulin resistance, triglycerides, and low-density lipoproteins 26 .

Men with KS may have reduced bone mineral density in the lumbar spine, femoral neck, and total hip, but TRT does not ameliorate all of these findings 27 . As Tahani et al . state, “bone loss in KS might, at least in part, be independent of hypogonadism” 27 .

Is there a predisposition to malignancy?

Although the overall incidence of malignancy is not higher in the KS population, there is an increase in multiple types of cancer, including breast cancer and extragonadal germ cell tumors (GCTs). However, the overall incidence is so low that routine screening of an asymptomatic KS male is not recommended.

According to Williams et al ., 3% of GCTs diagnosed in males under the age of 19 occur in boys with a 47, XXY karyotype 28 . Conversely, the risk of developing a GCT in KS patients of this age group is 1 in 4,000 (risk ratio of 18.8) compared with the normal 46, XY male population. In their study, the parent of origin of the supernumerary X chromosome was split equally between mother and father. Most GCTs in males with KS are mediastinal in location and teratomatous in histology. In fact, among KS males aged 14 to 19, GCTs are almost exclusively mediastinal. The exact biological etiology driving mediastinal GCT development is unknown at this point. These tumors may present at a young age as precocious puberty because of human chorionic gonadotropin secretion by the tumor cells. Older boys may present with chest pain or respiratory symptoms due to tumor location. Although today’s literature describes primarily pediatric cases of mediastinal GCTs in KS, adult males with KS have also been shown to develop these masses 29 . Males with mediastinal GCTs should be screened for KS.

In her literature review of the data to date, Brinton concluded that the risk of breast cancer in the male with KS is 20- to 30-fold higher than expected and that there is a 60-fold increase in mortality 30 . With the absolute incidence still being quite low, routine screening mammography is not a formal recommendation 30 .

What is the impact on spermatogenesis and implications for fertility?

KS is found to be the etiology of infertility in 10% of azoospermic males and accounts for up to 2% of infertility in the general male population 31 . To give a brief embryologic overview, germ cells migrate to the genital ridges and populate the nascent seminiferous tubules. The Sertoli cells and Leydig cells form within and around the seminiferous tubules, respectively. Beginning just after birth, peaking in the 4th to 10th week after delivery and nadiring to prepubertal levels by 6 months of age, there is a surge in pituitary gonadotropins, also known as “mini puberty”, which stimulates the expansion and limited differentiation of the spermatogonial stem cell pool 32 . The seminiferous tubules lengthen, testis volume enlarges, and Sertoli cell number increases 33 . Cell cycle activity in the testes remains fairly quiescent until the initiation of puberty as a result of hypothalamic gonadotropin-releasing hormone (GnRH) stimulation of pituitary LH and FSH production and release. LH triggers intratesticular testosterone manufacture while FSH sparks Sertoli cell maturation and spermatogenic induction. In the KS male specifically, peripheral serum testosterone values rise but typically level off in the low normal range while the vast majority of 47, XXY spermatogonia become apoptotic as they fail to complete meiosis.

Classic puberty in the adolescent heralds the start of intratesticular testosterone production, necessary for spermatogenesis. Although testosterone levels do increase on schedule, males with KS experience a blunting of both Sertoli and Leydig cell function after the initiation of puberty. There is progressive apoptosis of the 47, XXY spermatogonia, ultimately resulting in azoospermia in adulthood 34 . However, it cannot be simply that an inability to sequence through the meiotic cascade leads invariably to such rapid and dramatic cell senescence and demise, as we would then expect the same events to unfold in spermatocytic maturation arrest resulting from genetic causes. In this latter anomaly of spermatogenesis, viable spermatogonia and spermatocytes stack up like cars on a highway behind an impenetrable roadblock—remaining alive but prevented from progressing further. However, the presence of spermatozoa in about 50% of KS testes is best explained by postulating a low level of gonosomal mosaicism. Escaping death and proceeding through meiosis I and II, as well as spermiogenesis, are scattered 46, XY spermatogonia which, through a second quirk of nature, have lost the additional X chromosome, resorted to a normal diploid state, and come to reside in a seminiferous tubule here or a seminiferous tubule there. The distribution is most likely random, explaining the patternless and haphazard location within the tiny testes of spermatogenically healthy tubules.

Until the advent of assisted reproductive techniques, males with KS were considered to be sterile. However, with further understanding that these men may have focal areas of spermatogenesis within the testes, testicular sperm extraction (TESE) has become a mainstay treatment option for sperm harvesting and future reproduction 35 – 37 .

As described in the preceding paragraph, during mitotic renewal or differentiation of an occasional 47, XXY spermatogonial stem cell, the extra X chromosome may be lost because of anaphase lag 38 . Subsequently, the resultant 46, XY daughter cells have the genetic opportunity to replicate. The extent of spermatogenesis in a male with KS appears then to depend on the presence and quantity of these 46, XY germ cells. Some argue that TESE procedures for sperm cryopreservation should be pursued during the adolescent period, or possibly earlier, prior to the progression of spermatogonial apoptosis. The opposite school of thought believes that TESE should be delayed until adulthood. As reviewed recently by Oates, many studies have examined this relationship between age at time of TESE and rate of successful surgical sperm retrieval (SSR) 39 . Although some of the evidence is contradictory, the majority have found no difference in TESE outcomes among different age groups 39 , 40 . In fact, Franik et al . demonstrated that SSR was lower in patients below the age of 16 who underwent TESE 41 .

To elaborate on and investigate spermatogenic potential in 47, XXY testes, van Saen et al . found that only 30% of peripubertal patients from 12 to 16 years had any germ cells on testicular biopsy, suggesting that germ cell loss begins well before puberty 40 . The authors’ study beautifully addressed the timing of germ cell loss and the rate of TESE success in a number of different age ranges. They examined the testes of five fetuses with a 47, XXY karyotype and concluded that the number of germ cells identified “was not significantly different from controls”. There was very little fibrosis noted. However, Winge et al . observed that, in eight KS fetuses they studied, germ cell loss may already be occurring, specifically failure of gonocytes to differentiate into the slightly more advanced stage of pre-spermatogonia 42 . The authors suggested an upregulation of X-chromosomal transcripts and enrichment of certain long non-coding RNAs (ncRNAs) as a possible etiologic explanation. Winge et al ., in a further study, concluded that the mechanisms underlying germ cell loss may be different in the fetal, prepubertal, and adult stages and that aberrant maturation of Sertoli and Leydig cells may also be contributory 43 .

In their study mentioned above, van Saen et al . also documented a paucity of detectable germ cells in prepubertal patients, no ongoing spermatogenesis in 20 biopsies from peripubertal boys, and sperm detection in only 1 out of 20 adolescent boys undergoing TESE. However, in the older adult patients with KS, TESE recovered fully formed spermatozoa in 48% with no difference noted between the various age groups (18–25, 26–30, 31–35, and >35 years), a finding supported by the meta-analysis by Corona et al . 35 . To summarize, van Saen et al . concluded that “sperm recovery by TESE at early adolescent age does not appear to result in higher sperm retrieval efficiency compared to TESE at adult age”. Rives et al . also cautioned that “no predictive factors can actually demonstrate that early diagnosis of KS would allow increasing the chance of sperm retrieval” 44 . Taking a slightly different and novel focus, Ragab et al . recently reported on the microsurgical TESE (mTESE) SSR in two overall groups of patients with KS: 31% in those with a history of unilateral or bilateral cryptorchidism and 38% in those with eutopic testes at birth—no statistical difference was seen. SSRs also did not differ between those KS men born with unilateral or bilateral undescended testes 45 . Embedded within the excellent data of their study is the fact that, in the group of KS males with eutopic testes, the median age at which mTESE found sperm was comparable to the age at which no sperm were retrieved: 23 (range 15–26) and 20.5 (range 17–48), respectively 45 .

In a discussion of preferred surgical techniques, a large systematic review by Corona et al ., which compares techniques of TESE in patients with KS specifically, demonstrates similar sperm retrieval rates with both conventional TESE and mTESE 35 . However, studies looking more generally at men with non-obstructive azoospermia do suggest that there is an increased sperm retrieval rate in mTESE 46 . With regard to the ultimate goal of reproduction, the couple must proceed with intracytoplasmic sperm injection (ICSI) to use the spermatozoa that may be retrieved in either the freshly harvested or the frozen-thawed state. Recent studies report an average sperm retrieval rate per TESE procedure of 34% to 44% and an average live birth rate per ICSI cycle of 29% to 43% 31 , 35 . In their latest report, aptly titled “Is genetic fatherhood within reach for all azoospermic Klinefelter men?”, Vloeberghs et al . caution that a multiplicity of factors conspire to actually determine the ultimate chance of biological fatherhood, not just the probability of finding sperm on TESE or mTESE 31 . To wit, only 14 out of 138 (10.1%) KS men and their partners starting treatment succeeded in having a live birth. Hormonal parameters have not yet been shown to predict the success of TESE 31 .

Sex-chromosome aneuploidies are also fascinating from a purely genomic perspective. Although the supernumerary X chromosome undergoes inactivation, there are clearly genes that escape inactivation that are either directly or indirectly responsible for the KS phenotype. Via RNA sequencing (RNA-seq), Winge et al . demonstrated “211 differentially expressed transcripts in the fetal KS testis”, a significant enrichment of X-chromosomal transcripts and long ncRNAs 42 . This suggested to them that the failure of gonocyte differentiation into pre-spermatogonia in the fetal testis led directly to the extremely poor (or absent) spermatogenesis in the adult KS testis. In their “companion” study on adult KS testes, they conclude that disturbed maturation of Sertoli and Leydig cells may further inhibit, and directly impair, spermatogenesis as well 43 .

In their beautiful 2018 report, Skakkebæk et al . further defined the genetic underpinnings of the phenotypic findings in Klinefelter males 47 . That is, they asked how the additional X chromosome is influencing form and function. They performed both genome-wide DNA methylation and genome-wide RNA-seq of peripheral blood leukocytes in 67 and 9 patients with KS, respectively. They had similar numbers of 46, XY male and 46, XX female controls for both groups. They built on previous work linking changes in the methylome and transcriptome of what we see in KS males 48 , 49 . They found 11 differentially methylated positions (DMPs) on the two X chromosomes when comparing KS and female controls (corresponding to eight genes) and 168 autosomal DMPs between KS and control males (corresponding to 85 genes). In their RNA-seq expression profiling studies, they found 31 differentially expressed genes between KS and male controls. Perhaps most importantly was the discovery that there were 23 differentially expressed autosomal and seven differentially expressed X-chromosomal ncRNA genes between the KS and control males. ncRNA genes may be involved in X inactivation as well as neurodevelopment and cognition 50 , 51 . Their conclusion forecasts future research and exploration efforts to causally link exact gene expression/regulation of the altered phenotype of KS males: “in conclusion, our results demonstrate a unique epigenetic and genetic landscape in KS involving both the X chromosome and the autosomal chromosomes, with few correlations between methylation values and gene expression” 47 . Raznahan et al . added to this growing body of data by also reporting on sex-chromosome dosage effects on gene expression in hopes of teasing out why 47, XXY; 47, XXX; 47, XYY; 45, XO; and 48, XXYY are all phenotypically distinct 52 .

A fair amount of focus has been placed on the role of androgen replacement therapy in KS, as testosterone levels are known to be low or low normal. Although this may be an important component of management with regard to pubertal advances, it will not have any positive effects on spermatogenesis or fertility. However, some studies suggest that TRT does not appear to impact sperm retrieval rates in patients with KS 53 , 54 . Some practitioners may employ replacement therapy just after the onset of puberty, typically in the form of gel, as compliance is higher 54 . Aromatase inhibitors may be used in males with gynecomastia.

Conclusions

As a genetic condition that affects 1 in 600 live male births, KS is being seen commonly enough that it is important for practitioners to understand the wide spectrum of issues and the multidisciplinary approach that is required to appropriately treat these patients. It is also essential to take note of distinct features that are known to be associated with KS, as this allows providers the opportunity to recognize undiagnosed cases. Along these lines, there is increasing momentum in genomic studies that are beginning to shed light on the differential gene expression that may explain the KS phenotypes and the variability within.

Despite ongoing investigations, there are still many essential questions, including whether hormone replacement therapy plays a beneficial role and what timing is appropriate for sperm retrieval for those interested in reproduction. The evidence to date suggests that hormone replacement therapy with testosterone may be valuable for peripubertal KS boys who appear to have delayed initiation of puberty and distinctly lack virilization. There is also a lack of data to support the advantage of TESE in the adolescent compared with the adult patient with KS. In fact, the counterargument, that optimal timing for TESE in the patient with KS is during early adulthood, is becoming more apparent.

[version 1; referees: 2 approved]

Funding Statement

The author(s) declared that no grants were involved in supporting this work.

Editorial Note on the Review Process

F1000 Faculty Reviews are commissioned from members of the prestigious F1000 Faculty and are edited as a service to readers. In order to make these reviews as comprehensive and accessible as possible, the referees provide input before publication and only the final, revised version is published. The referees who approved the final version are listed with their names and affiliations but without their reports on earlier versions (any comments will already have been addressed in the published version).

The referees who approved this article are:

• Claus H. Gravholt , Department of Endocrinology and Department of Molecular Medicine, Aarhus University Hospital, 8200, Aarhus, Denmark No competing interests were disclosed.
• Richard N. Yu , Department of Urology, Boston Children’s Hospital, Boston, MA, USA No competing interests were disclosed.

Tom Cruise Doesn't Really Do Sequels Very Often, But There's Apparently One Movie His Co-Star Was Shocked Didn't Get A Follow-up

"He did bite me at the end..."

Unless we are talking about Mission: Impossible – M:I 8 is currently filming or the long-delayed Top Gun : Maverick – Tom Cruise isn’t known for making very many sequels to his flicks. But, according to one former cast member, there is one film in his oeuvre that he is shocked never got a follow-up. The former cast member in question is Christian Slater , who co-starred along with Cruise and Brad Pitt in one of the best films of the 90s , the film adaptation of Anne Rice’s novel Interview With The Vampire . According to the Heathers alum, he’s shocked that he and the Risky Business star never got a second bite at the neck, playing a vampire in a sequel.

Christian Slater Reflects on The Missed Sequel Opportunity

It's hard to believe it's been nearly three decades–the movie turns 30 this year–since we were first mesmerized by one of the most iconic vampire performances on screen. In an interview shared on Comicbook.com’s Chris Killian’s Instagram , Christian Slater discussed how he and Cruise were reflecting on the project. The pair expressed a mutual astonishment over the movie's lack of a sequel despite their roles becoming fan favorites. He recounted:

Tom Cruise and I were both surprised that Interview With The Vampire didn’t get a sequel. You know, that would have been fun. Uh, I mean, he did bite me at the end of that thing.

For my money, even three decades since its release, Interview With The Vampire is still one of the best vampire movies ever committed to celluloid. Upon release, it was a critical and financial success, becoming one of the highest-grossing R-rated horror films of 1994, and grew to become a goth cult favorite. Not to mention, it introduced the broader world to actress Kirsten Dunst , a role Cruise helped the young actress secure thanks to some very practical advice.

The Enduring Legacy of 'Interview With the Vampire'

Tom Cruise's electrifying turn as the vampire Lestat was central to the film’s success. Initially, Anne Rice, the source material's author, hated Cruise’s casting in the role. However, his performance won her over and helped cement the film's place in cinematic history. Despite this success and the buzz around it, plans to continue Lestat's story with Cruise in a sequel never came to fruition. While the potential for a direct follow-up to this beloved film sparked plenty of discussions, ultimately, those plans remained just out of reach, leaving fans to wonder what might have been.

There was anticipation over a sequel starring the Top Gun A-lister, yet various factors, including rights issues, changes in production companies, and creative decisions, led to a different path for the book to screen adaptations of Rice's novels.

The next film in the series, Queen of the Damned, starring the late singer and actress Aaliyah , was released in 2002, but it did not involve Tom Cruise. Instead, Stuart Townsend took over the role of Lestat. The film combined elements from the second and third books of Rice's series, The Vampire Lestat and Queen of the Damned . Still, it diverged significantly from the source material and did not continue directly from where Interview left off.

Interview With The Vampire is enjoying a second adaptation and return to screens as a television series, which is gearing up for its second season on AMC .

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The Possibility Of A Sequel With Cruise

The ending of Interview with the Vampire set the stage perfectly for a sequel. It left audiences reeling from its final twist and introduced a new narrative thread with Daniel, the San Francisco reporter who becomes enthralled with Louis's tale of the undead. As Christian Slater hinted in the recent interview, the setup was ideal for a follow-up. Yet, despite the ripe storytelling potential, a direct continuation wasn't in the cards. Could a sequel with Cruise still happen? As the interviewers and Slater point out, Tom Cruise barely looks like he's aged since the last time he put on the Vampire Lestat's fangs. So, never say never.

Christian Slater's most recent work, another book adaptation, the series The Spiderwick Chronicles , is available now for free on The Roku Channel . Be sure to check out our 2024 movie schedule to see what upcoming horror movies are heading to a screen near you.

Ryan graduated from Missouri State University with a BA in English/Creative Writing. An expert in all things horror, Ryan enjoys covering a wide variety of topics. He's also a lifelong comic book fan and an avid watcher of Game of Thrones and House of the Dragon. 

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Klinefelter Syndrome

What is klinefelter syndrome (ks).

Klinefelter syndrome (KS) is a genetic condition that happens when a male is born with an extra copy of the X chromosome. KS can affect different stages of physical, language, and social development. It also usually causes infertility .

What causes Klinefelter syndrome (KS)?

KS is not inherited. It's caused by a random error that happens when a sperm or egg is formed. This error causes a male to be born with an extra X chromosome.

Chromosomes are tiny "packages" in your cells that contain your genes. Genes carry information, called DNA, that controls what you look like and how your body works. Normally, you're born with a set of 46 chromosomes in each cell, two of which are the sex chromosomes. Females usually have two X chromosomes (XX), and males usually have one X and one Y (XY). In KS, the male usually has two X chromosomes and one Y (XXY).

In rare cases, a male could have XY in some cells and XXY in other cells. This is called mosaic Klinefelter syndrome. Males with mosaic Klinefelter syndrome may have fewer symptoms, depending on the number of XY cells they have in their bodies and where those cells are located.

What are the symptoms of Klinefelter syndrome (KS)?

Some males with KS may have no symptoms or very mild symptoms. So they might not know that they have KS, or they might not get diagnosed with it right away. In other cases, the symptoms can be more severe.

Boys with KS may be taller than other boys their age, with more fat around the belly. After puberty, they may have:

• Smaller testes and penis
• Breast growth (called gynecomastia)
• Less facial and body hair
• Reduced muscle tone
• Narrower shoulders and wider hips
• Weaker bones
• Decreased sexual interest
• Lower energy

Many of these symptoms happen because of low testosterone in the body. Testosterone is the main male sex hormone .

Boys with KS may also have learning or language problems. These problems may affect them socially, so they may be shy and quiet and can have trouble fitting in.

Most males with KS are infertile because they make little or no sperm.

How is Klinefelter syndrome (KS) diagnosed?

What are the treatments for klinefelter syndrome (ks).

There is no cure for KS, but treatments are available. The sooner the treatment is started, the better. If treatment is started by early puberty, it will likely help in reducing the symptoms.

Treatments for KS may include:

• Testosterone replacement therapy
• Surgery to remove or reduce breasts
• Physical, speech, behavioral, and occupational therapy

In some cases, fertility treatments may help men with KS father children.

NIH: National Institute of Child Health and Human Development

• Karyotyping (Medical Encyclopedia) Also in Spanish
• Klinefelter Syndrome (Mayo Foundation for Medical Education and Research)
• Klinefelter Syndrome (For Teens) (Nemours Foundation)

Clinical Trials

Journal articles references and abstracts from medline/pubmed (national library of medicine).

• Article: Serum Lipocalin-2 Levels as a Biomarker in Pre- and Post-Pubertal Klinefelter...
• Article: Detection of chromosomal aneuploidy in ancient genomes.
• Article: Gonadotropins for pubertal induction in males with hypogonadotropic hypogonadism: systematic review...
• Klinefelter Syndrome -- see more articles

Patient Handouts

• Klinefelter syndrome (Medical Encyclopedia) Also in Spanish

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.