Klinefelter syndrome: the genetic disease that affects the genitals and fertility of men | Science and health

"They found out that I was menopausal," he says, now 50 years old. That's the way he explained the test results, which showed that his fertility rate was too low.

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

Specifically, he had an extra X chromosome (normal men have a pair of XY chromosomes). Manu suffers from a genetic disorder 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 many years. "At that time, if you told anyone, the first thing to do was to laugh. It happened more than once, "he says.

He did not tell his parents anything. His sister thought that was all his invention. Manu also stopped talking to the few parents he talked to about the illness, as they started to see him "like crazy."

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

Humans have 23 pairs of chromosomes, which determine our biological sex. In the case of women (XX), the pairs are formed by identical chromosomes, in X format; in the case of men, the pairs are formed of an X chromosome and a Y chromosome.

But men with Klinefelter syndrome, like Manu, have an extra X in their cells. The most common is that the set of chromosomes is then XXY. But there are even rarer cases in which the set (called in the biology "karyotype") consists of two X, or even three others, leading to the XXXY and XXXXY karyotypes.

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

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

Manu's body, for example, does not naturally produce testosterone. Therefore, every month he receives hormone injections, since the diagnosis of syndrome. Before that, he said that he had never had a beard on his face and that he had barely underarm hair.

"We go through the streets every day with two or three men who have the same problem and who do not know," says Diego Yeste, doctor in charge of the Pediatric Endocrinology Unit at Vall Hospital. of Hebron of 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 by saying that "Physiologically I am a man, but biologically I am a woman," he says.

Manu's explanation, however, is misleading, says Yeste. "From a chromosome point of view and from a sexual appearance, these are men. It's not because you do not produce testosterone that you will feel like a woman. And that does not create no difficulties in sexual identification.These patients have no reason to have more identity problems the rest of us, "he says.

In many men with Klinefelter – but not at all – the genitals do not develop completely. They are smaller than normal, which makes testosterone production difficult.

In addition, breasts may develop longer than normal and puberty may last longer than expected or may not occur.

Faced with the low production of hormones, fertility is affected. In addition, these men are at a higher risk of developing type 2 diabetes, blood clots, involuntary tremors, 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 that testosterone can be injected intramuscularly every two to three weeks or every six months, depending on the dose.

If the syndrome is detected in time, infertility can also be prevented or restored.

"The problem with these boys, who start puberty spontaneously while their testicles are deteriorating, is that they run a greater risk of infertility. The male hormone itself and the Other mechanisms remove the germ cells from which sperm are formed – is this a process not fully understood, but excess chromosomes may favor it, "says the doctor.

Thus, it is currently recommended for these patients to extract and freeze their sperm during puberty. Currently, between 20% and 30% of men with Klinefelter produce enough quality semen to conceive a woman, he says.

Others, however, can nurture hopes with the development of experimental research. "It is recommended to do a testicular biopsy to try to get sperm from there, or at least retain the tissue, in a future that we think is close, to produce the spermatozoon by cell differentiation," explains -t it.

The stigma of infertility

For Manu, however, the main disadvantage of the genetic disorder is its love effect. "When you tell your partner that you have Klinefelter's syndrome, she's leaving you."

"And it's very difficult to go through this relationship after relationship," he says.

When he was diagnosed, he had been in a relationship for four years. The girlfriend of the time accompanied her when receiving the test results and was present when the doctor had explained the syndrome to them.

"At first she reacted well, but soon left, she left because I had Klinefelter, and I know because she told me," he said. declared.

For 17 years, Manu has formed two other relationships. At first, she did not tell the partners that she was suffering from the syndrome and confessed that she had even thought to hide this fact forever.

Even though he had expected a year of relations in one case and two in the other before counting, the two girlfriends rejected him. "Most women want a child and I can not give it," he says.

Isabel Quiles, a psychologist at Vall Hospital in Hebron, says that infertility creates a sense of stigma "highly relevant" in patients with the syndrome.

"It's something they keep quietly and deeply in. They are in a great anguish before saying that they suffer from Klinefelter and that they therefore can not have pain." Children, "she says.

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

Many patients are waiting to be adults to go out with women. "Sometimes they are looking for older partners with more sexual experience, who already know that size is not so important.Never have I ever talked about someone who has laughed at their genitals, I believe that's because they expect to have a very stable relationship before deciding to have sex, "he says.

As in the case of Manu, discrimination often begins with the people closest to him. "If the family is a bit primitive and sexist, the child will generally be disapproved by the father, who fears having a child with small genitals, forced to operate reduce breast," says Quiles.

"They do not want anyone to know, because they associate the syndrome with homosexuality, when in fact it is not the case," he said.

Getting the right diagnosis before the age of six months is important because if the child receives the testosterone needed at this stage, one can avoid consequences such as micropenis, says endocrinologist Diego Yeste.

Psychologist Isabel Quiles adds that children with this disorder also tend to have little energy and are small explorers, which has repercussions on learning. In addition, they tend to present socialization difficulties and, in adolescence, may suffer from depression and marginalization. For this reason, it is important to stimulate them early.

Yeste recommends that paediatricians and parents pay attention to the three signs of childhood: excessive growth in the early years of life, genital abnormality, and language and learning disabilities.

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

He believes that if people know more about disorder, prejudices will be reduced. "Most people are scared as soon as they hear the first word:" syndrome, "" he says.

Diego Yeste agrees. "When we tell them that it's a syndrome and that they have more chromosomes, people get their hands on their heads, I think they say to themselves," I'm a monster " And they are not, "he said.

The doctor is in favor of adopting a name that alleviates the syndrome. "There are other pathologies that cause even more serious disorders, and society tolerates them better," he said.

In Spain, Klinefelter syndrome is currently being diagnosed more and more, thanks to the technique of amniocentesis, a test performed during pregnancy.