Monday , March 8 2021

Klinefelter's syndrome: a genetic disorder 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 attracted the attention of the doctor.

"They found out I was menopause"he says, at the age of 50. In this way, he found an explanation for the results of the test, which showed that his fertility rate was too low.

He was sent to another clinic, where the medical team recommended another test before giving the final diagnosis: he had an extra chromosome.

In particular, he had an additional X chromosome (normal men had XY pairs of chromosomes). Manu is suffering from a genetic disorder called Klinefelter's syndrome, named after a doctor who first described it in the 1940s, an American Harry Klinefelter.

The disease has become the biggest secret of Manu for several years. "At that time, if you told someone (about the problem), the first thing they did was laugh, it happened to me several times," he says.


He did not say anything to his parents. His sister thought it was his invention. Manu also talked to several relatives of whom he was talking about the illness, because he began to see him "like a monster."

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

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

But men affected by Klinefelter's syndrome like Manu have extra X in their cells. The most common is that the set of chromosomes is XXY. But there are still rare cases in which a set (called "biology of the karyotype") consists of two X's plus or even three, which results in the karyotypes XXXY and XXXXY.

Therefore, Klinefelter syndrome is sometimes referred to as the XXY syndrome.


One of the main consequences of the disease is the lack of production of testosterone, male sex hormones.

Manu's body, for example, naturally does not produce testosterone. Therefore, he receives hormone injections every month because he is diagnosed with a syndrome. Prior to that, he says he never had a beard on his face and that he had hardly had the armpit on the armpit.

"Surely, you and I every day cross the street with two or three men who have a problem and do not know," says Diego Yeste, MD, pediatric unit of endocrinology at the Vall d 'Hebron 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 this. Manu, for example, describes the problem by saying that "physiologically, I am a human, but, biologically, I am a woman," he says.

However, Manu's explanation is wrong, Yeste says. "From a chromosome point of view and a sexual look, they are men. It's not because you do not produce testosterone in which you feel like a woman, and that does not create the difficulty of sexual identification." These patients have no reason to have more difficulty in the identity of the rest of us "he says.

Physical consequences

In many men with Klinefelter – although not at all – genitals do not develop completely. They are less than normal, making it difficult to produce testosterone.

In addition, breasts can grow longer than normal, and puberty can last longer than expected or may not happen.


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

However, all these physical symptoms can be treated. Yeste says testosterone can be injected intramuscularly every two to three weeks or every six months, depending on the dose.

If the syndrome is detected over time, sterility can also be avoided or recovered.

"The problem with these boys, who spontaneously start puberty as their testicles get worse, is that they are at greater risk of infertility. The male hormone itself and other mechanisms are cellular cells from which spermatozoids are formed. Whether the process is fully understood, His surplus chromosome is suitable, "says the doctor.

Thus, it is currently recommended for these patients to extract and freeze sperm during puberty. At this point, between 20% and 30% of men with Klinefelter produce enough high quality spermatozoa to imagine a woman, he says.

However, others can find hope with the development of experimental research. "It is recommended that a test biopsy be done to try to get spermatozoid from there, or at least preserve tissue in the future which we think is close, to produce spermatozoids through cell differentiation," he says.

Stigma of infertility

For Manu, however, the main disadvantage of genetic disorder is the consequence at the amateur level. "When you tell your partner that you have Klinefelter's syndrome, she leaves you."

"It's very difficult to go through this relationship after the relationship," he says.


When diagnosed, he was in a relationship for four years. The girl of that time followed him on receiving the test results and was present when the doctor explained them about the syndrome.

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

During the past 17 years, Manu has started two more connections. Initially she did not tell partners that she had a syndrome, and admits she was thinking even to hide this fact forever.

Although he expected a year of connection in one case, and two in the other, before counting, both girls refused him. "Most women want a child, and I can not give them," he says.

A psychologist at Vall d 'Hebron Hospital, Isabel Quiles, says infertility creates a "very relevant" sense of stigmatization among patients affected by this syndrome.

"It's something that keeps quietly and keeps deep inside, they are in great pain before they say they are suffering from Kleinfelter and therefore can not have children," she says.

For most patients, syndrome is their 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 adults until today. "Sometimes they look for older partners with more sexual experience, who already know that size is not that important. I've never been told about someone who laughed in my genitals, I believe that's because they expect to have a very stable relationship before deciding they have sex, "he says.


Rejecting the family

Often, like Manu, discrimination begins with the closest people. "If the family is a little primitive and sexist, the child will usually be wrapped up by a father who hates having a child with small genitals, that he must work to reduce his breasts," Quiles said.

"They do not want to know anyone because they connect homosexuality syndrome, when it's not really that way," he says.

Signs of warning

Getting the correct diagnosis before the first six months of life is important because if a child gets the testosterone needed during this step, a consequence may be avoided like micropenosis, says Diego Yeste's endocrinologists.

Psychologist Isabel Quiles adds that children with this disorder tend to have little energy and few researchers, which has repercussions on learning. In addition, they tend to present the problems of socialization and, in adolescence, can suffer from depression and marginalization. For this reason, it is important to stimulate them earlier.

It recommends that pediatricians and parents pay attention to three signs during childhood: excessive growth in the first years of life, genital anomaly, and language and learning disorders.

Manu is now trying to organize himself in a support group, such as the Catalonian Association of Klinefelter's Syndrome (Ascatsk), which helped find it a few years ago. The idea is to meet other men with disorders, to exchange experiences.

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

Diego Yeste agrees. "When you tell them that it's a syndrome, and they have more chromosomes, people shake hands, I think they think:" I'm a monster "and they are not," he says.

The doctor works on adopting a name that softens the syndrome. "There are other pathologies that cause even more severe disorders, and society tolerates them better," he says.

In Spain, currently Klinefelter syndrome is increasingly diagnosed by amniocentesis techniques, a test performed during pregnancy.

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

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