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Klinefelter syndrome: a genetic disease affecting the genitals and fertility of men

Spaniard Manu had frequent blood tests for type 2 diabetes. But at the age of 33, one of these tests caught the attention of doctors.

"They found out that I was climactericHe says, at the age of 50. So he found an explanation for the test results, which showed that his birth rate was too low.

He was transferred to another clinic, where the medical team recommended another battery of tests before giving a final diagnosis: he had an extra chromosome.

In particular, he had an extra X chromosome (normal males have an XY pair of chromosomes). Manu suffers from a genetic disease called Klinefelter syndrome, named after the doctor who first described it in the 1940s, the American Harry Klinefelter.

The disease has become Manu's biggest secret for several years. “At that time, if you told someone (about the problem), the first thing they did was laugh. “It happened to me more than once,” he says.


He said nothing to his parents. His sister thought it was all his invention. Manu also stopped talking to several relatives, whom he spoke about the disease, as they began to see him "as a monster."

Despite this, Klinefelter syndrome is one of the most common genetic disorders among men: it occurs in 1 out of 576 men, according to a study conducted in Denmark in the early 1990s by the Aarhus Psychiatric Hospital.

People have 23 pairs of chromosomes that determine our biological sex. In the case of women (XX), the pairs are formed by identical chromosomes in the X format; in the case of males, the pairs are formed by one X chromosome and one in the Y format.

But men with Klinefelter syndrome, such as Manu, have an extra X in their cells. The most common is that the set of chromosomes then XXY. But there are even more rare cases when the set (called in “karyotypic” biology) consists of two X plus or even three more, which leads to karyotypes XXXY and XXXXY.

Because of this, Klinefelter syndrome is also sometimes called XXY syndrome.


One of the main consequences of the disease is a deficiency in the production of testosterone, the male sex hormone.

The body of Manu, for example, naturally does not produce testosterone. Therefore, he receives hormone injections every month, as he was diagnosed with the syndrome. Before that, he says that he never had a beard on his face and that he barely had hair on his armpits.

“Of course, you and I cross the street every day with two or three men who have a problem and they don’t know,” says Diego Yeste, a doctor in charge of pediatric endocrinology at Val Jebron Hospital in Barcelona,

“The problem is that many people are not even diagnosed,” he warns. The disease is so little known that even some patients do not fully understand it. Manu, for example, describes the problem, saying that "I am physiologically human, but biologically, I am a woman," he says.

Manu’s explanation, however, is misleading, says Yest. “From a chromosomal point of view and sexual appearance, they are men. This is not because you do not produce testosterone, you will feel like a woman. And it does not create difficulties with sexual identification. These patients have no reason to have more personality problems with the rest of us, he says.

Physical effects

Many men with Klinefelter – although not – the genitals do not develop completely. They are smaller than normal, making it difficult to produce testosterone.

In addition, the breasts may grow longer than usual, and puberty may take longer than expected or may not occur.


Faced with low hormone production, fertility affects. In addition, these people have a higher risk of developing type 2 diabetes, blood clots, involuntary jolts, breast cancer, osteoporosis, rheumatoid arthritis and lupus, according to information from the National Library of Medicine.

All of these physical symptoms, however, are treatable. Yeste says testosterone can be given intramuscularly every two to three weeks or every six months, depending on the dose.

If the syndrome is detected on time, sterility can also be avoided or restored.

“The problem with these boys, who start puberty spontaneously while their testicles deteriorate, is that they are at greater risk of being infertile. The male hormone itself and other mechanisms create germ cells from which sperm is formed. Is the process not fully understood, but the extra chromosomes can approve it, ”the doctor says.

Thus, at present these patients are recommended to extract and freeze sperm during puberty. According to him, at the moment between 20% and 30% of men with Klinefelter produce enough quality sperm to conceive a woman.

The rest, however, can fuel hopes for the development of experimental research. “It is recommended to do a biopsy of the testicle to try to get sperm from there or at least save the tissue so that in the future, we consider it close, we can produce spermatozoa through cell differentiation,” he says.

Infertility Stigma

However, for Manu, the main disadvantage of a genetic disorder is the consequences for the plane of love. "When you tell your partner that you have Klinefelter's syndrome, it leaves you."

“And it’s very difficult to go through these relationships after a relationship,” he says.


When he was diagnosed, he was in a relationship for four years. A girlfriend of that time accompanied him to receive test results and was present when the doctor explained to them about the syndrome.

“At first, she responded well, but soon left. She left because I had Klinefelter, and I know that because she told me, ”he said.

Over the past 17 years, Manu has started two more relationships. At first, she did not tell her partners that she had the syndrome, and she admits that she even thought about hiding this fact forever.

Despite the fact that he was expecting a year of relations in one case, and two in the other, before relying, both friends rejected him. “Most women want a child, and I can't give it,” he says.

Psychologist at Val Jebron Hospital, Isabel Kuils, says infertility creates a “very important” sense of stigma among patients with the syndrome.

“This is what they keep calm and hold deep inside themselves. They suffer a lot before they say they suffer from Klinefelter and therefore cannot have children, ”she says.

For most patients, the syndrome is a big secret. "They think:" When we go to the bedroom, what will happen? When she sees that my penis is small … ”Many reject the idea of ​​starting a relationship and finding a partner,” says the psychologist.

Many patients wait until they become adult women today. “Sometimes they look for older partners with more sexual experiences who already know that size is not so important. I have never been told about someone who laughed at their genitals, I believe that this is because they expect very stable relationships before making a decision about sex, ”he says.


Family waiver

Often, as in the case of Manu, discrimination begins with the people closest to it. “If the family is a bit primitive and sexisthen, then the child will usually frown at the father, who is outraged by the fact that he has a child with small genital organs, which has to act to (reduce) the breast,” Kuils says.

“They don’t want anyone to know because they associate the syndrome with homosexuality, when in fact it’s not,” he says.

Warning signs

Getting the correct diagnosis before the first half of the year is important, because if the child gets the testosterone needed at this stage, you can avoid such consequences as micropenis, says endocrinologist Diego Yeste.

Psychologist Isabel Kuils adds that children with this disorder also have little energy and little researcher, which has implications for learning. In addition, they tend to present difficulties of socialization and in adolescence may suffer from depression and marginalization. For this reason, it is important to stimulate them early.

Yeste recommends that pediatricians and parents pay attention to three signs in childhood: excessive growth in the first years of life, abnormalities of the genitals, and language and learning disorders.

Today, Manu is trying to reorganize himself into a support group, such as the Catalan Association of Klinefelter Syndrome (Askatsk), which he helped to find a few years ago. The idea is to meet other people with a mess, share experiences.

He believes that if people learn more about the disorder, prejudice will be reduced. “Most people are scared as soon as they hear the first word:“ syndrome, ”he says.

Diego Est agrees. "When you tell them that this is a syndrome, and they have more chromosomes, people hug their heads, I think they think," I am a monster. " And this is not the case, he says.

The doctor favors the adoption of a name that alleviates the syndrome. "There are other pathologies that cause even more serious violations, and society tolerates them better," he says.

In Spain, Klinefelter syndrome is now increasingly diagnosed through the amniocentesis method, which is performed during pregnancy.

The test is conducted with a sample of amniotic fluid, which is analyzed for genetic abnormalities such as Klinefelter syndrome and others.

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