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Klinefelter's syndrome: a genetic disorder that affects the sexual organs and fertility of men

Spanish 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 I was menopausal"he says, at the age of 50. He found an explanation of the test results that showed his fertility was too low.

He was referred to another clinic where the medical team recommended further tests before performing the final diagnosis: he had another chromosome.

Specifically, it had an extra X chromosome (normal men have an XY pair of chromosomes). Manu suffers from a genetic disorder called Klinefelter's syndrome, named after the doctor who first described it in the 1940s, to American Harry Klinefelter.

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


He did not tell his parents anything. His sister thought it was his invention. Manu also stopped talking to several relatives who talked about illnesses because they began to see him "as strange."

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

People have 23 pairs of chromosomes that determine our biological sex. In the case of women (XX), vapors are made up of identical X chromosomes; in men, the vapor is made up of one X chromosome and one Y format.

But men with Klinefelter syndrome, such as Manu, have extra X in the cells. The most common is that the set of chromosomes is XXY. There are, however, even rarer cases where the set (called "karyotype" biology) consists of two X plus or even three extras, resulting in karyotypes XXXY and XXXXY.

For this reason, Klinefelter's syndrome is sometimes called XXY syndrome.


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

Manu's body, for example, naturally does not produce testosterone. Therefore, every month, he injects the hormone because he was diagnosed with the syndrome. Previously, he says he never had a beard on his face and had barely stiff hair.

"Sure, every day you go through the streets by two or three men who have a problem and you do not know," says Diego Yeste, a doctor responsible for the pediatric endocrine unit at the Vall d 'Hebron Hospital in Barcelona.

"The problem is that many people are not even diagnosed," he warns. The illness is so little known that even some patients do not fully understand it. For example, Manu describes the problem by saying that "physiologically I am a man, but I'm a biologically biological woman," he says.

Manu's explanation is misleading, Yeste says. "From the chromosomal point of view and sex look, they are men, not because you are not producing testosterone that you will feel like a woman, and that does not create a problem with sexual identity, and these patients have no reason to have more problems with the rest of us," he says.

Physical consequences

In many men with Klinefelter – although not at all – the genitalia is not developing completely. They are smaller than normal, making testosterone more difficult.

In addition, breast can grow longer than normal and puberty may take longer than expected or may not occur.


In the face of low hormone production, fertility is affected. In addition, these men have a higher risk of type 2 diabetes, blood clots, involuntary shaking, breast cancer, osteoporosis, rheumatoid arthritis and lupus, according to information from the National Library of Physicians.

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

If the syndrome is detected in a timely manner, sterility or restoration of sterility may be avoided.

"The problem with these boys who start puberty spontaneously while their testicles are getting worse is that there is a higher risk of infertility." The male hormone alone and other mechanisms make germ cells form sperm, a process that is completely incomprehensible, but excess chromosomes can to favor, "says the doctor.

Currently, these patients are recommended to extract and freeze sperm during puberty. At this time, between 20% and 30% of men with Klinefelt produce enough quality sperm to imagine a woman, he says.

Others, however, can fulfill the hopes of developing experimental research. "It is recommended to perform a testicular biopsy to try to get sperm from there, or at least preserve the tissue, in the future that we believe is close to producing sperm through cell differentiation," he says.

Stigma of infertility

For Manu, however, the main drawback of genetic disorders is the consequences of love. "If you tell your partner that you have Klinefelter's syndrome, he'll leave you."

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


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

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

Over the past 17 years, Manu has started two more relationships. She did not initially tell her partners she had this syndrome, and admits she even thought she was hiding it forever.

Although in one case he expected the relationship one year and two in the other, before the start, both of the girlfriends rejected him. "Most women want a baby and I can not give it," he says.

Vall d Hebron psychologist Isabel Quiles says that infertility creates a "very relevant" feeling of stigma among patients affected by this syndrome.

"It's something they remain silent and deep inside. They are in great anxiety before they say they suffer from Klinefelter and therefore can not have children," he says.

For most patients, the syndrome is a big secret. "He thinks," When we go to the bedroom, what happens? When they see my penis is small … "Many reject the idea of ​​establishing a relationship and finding a partner," says a psychologist.

Many patients wait until they become adult women. "Sometimes looking for older partners with more sexual experience who already know that size is not so important I never told about something that laughed at their genitals, I believe it's because they expect to have a very stable relationship before he decides to have sex, "he says.


Rejection of the family

Often, as in Manu's case, discrimination begins with the people closest to him. "If the family is a bit primitive and sexist, the baby will usually be clouded by a father who has difficulty in having a child with small sexual organs, must work (reduce) breasts," says Quiles.

"They do not want anyone to know because they associate this syndrome with homosexuality when it's not really," he says.

Warning signs

The correct diagnosis before reaching the first six months of age is important, because if a child gets the testosterone needed during this step, it is possible to avoid the consequences, such as micropenic, says endocrinologist Diego Yeste.

Psychologist Isabel Quiles adds that children with this disorder also have little energy and are a small explorer who has an impact on learning. In addition, they tend to pose socialization problems and may experience depression and marginalization in adolescence. For this reason, it is important to stimulate them early.

Yeste recommends pediatricians and parents to pay attention to three signs in childhood: excessive growth in early years, genital anomalies and language and learning disabilities.

Today, Manu tries to re-organize a support group such as the Catalan Association of Klinefelter's Syndrome (Ascatsk), which he helped set up several years ago. The goal is to meet other disruptive men, share experiences.

He believes that if people know more about the disorder, prejudice will be reduced. "Most people are afraid of hearing the first word:" Syndrome, "he says.

Diego Yeste agrees. "When you tell them they are syndrome and have more chromosomes, people put their hands on their heads, I think they think," I'm a monster. "They are not," he says.

The doctor agrees to accept a name that alleviates the syndrome. "There are other pathological conditions that cause even more serious disorders and society is better tolerated," he says.

In Spain, Klinefelter's syndrome is currently being diagnosed more and more with amniocentesis, a test performed during pregnancy.

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

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