Wednesday , April 14 2021

Klinefelter syndrome: genetic disorder affecting sexual organs and male fertility

Spanish Manu had a frequent blood test for type 2 diabetes, but at the age of 33, one of these tests attracted the attention of doctors.

"They realized I was menopausalOr He says 50 years old. This found a description of the test results and showed that the fertility rate was very low.

When she was referred to another clinic, a medical team suggested another test battery before giving the final diagnosis: there were extra chromosomes.

Specifically, there was an extra X chromosome (there are a pair of XY chromosomes in normal men). Manu first suffered from a genetic disease called Klinefelter's syndrome, which was named after the physician described in the American Harry Klinefelter in the 1940s.

The disease has been Manu's greatest secret for several years. Dü Then, if you tell someone (about the problem), the first thing they did was laugh. She told me more than once. Bana


He didn't tell his parents anything. Her sister thought it was all she had. Manu also stopped talking to the few relatives he had mentioned about the disease and began to see him sayı like a strange Man.

However, Klinefelter syndrome is one of the most common genetic disorders in males: a study conducted in the early 1990s by the Aarhus Psychiatric Hospital found a study in Denmark on 576 men.

Our people have 23 pairs of chromosomes that determine our biological sex. In women (XX), the pairs are formed by the same chromosomes as X; In the case of males, the couples have one X chromosome and one is Y-shaped.

However, there are extra X in the cells of men affected by Klinefelter syndrome such as Manu. The most common is that the set of chromosomes is later XXY. However, there are also more rare cases where the cluster (called karyotype "biology") has two X plus plus three more, even resulting in XXXY and XXXXY karyotypes.

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


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

For example, Manu's body does not naturally produce testosterone. Therefore, every month he receives hormone injections because he is diagnosed with the syndrome. Before that, he said he had no beards on his face and he barely had hair.

"I'm sure you and I are crossing the street every day with two or three men who don't and don't know," says Diego Vallen, Doctor Yeste, who is in charge of the pediatric endocrinology unit at the Vall d'Hebron Hospital in Barcelona.

Or The problem is that many people can't even be diagnosed, “he warns. The disease is little known, even some patients did not fully understand it. For example, Manu, ben physiologically, I am a man. But biologically, I'm a woman, Ama he says.

However, Manu's description is misleading, says Yeste. "From a chromosomal point of view and sexual appearance, they are men. They are not producing testosterone that will feel like a woman. And it does not create difficulties in sexual identity. There is no reason for these patients to have more identification difficulties. The rest," he says.

Physical results

Many men with Klinefelter do not develop sexual organs. They are smaller than normal, making it difficult to produce testosterone.

In addition, the breasts may take longer than normal and adolescence may or may not last longer than expected.


With low production of hormones, fertility is affected. Furthermore, according to the National Library of Medicine, these men have a higher risk of developing type 2 diabetes, blood clots, involuntary shivering, breast cancer, osteoporosis, rheumatoid arthritis and lupus.

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

If the syndrome is detected on time, sterility can also be prevented or recovered.

"In these men, the problem that has begun in adolescence is the risk of becoming infertile while the testicle is deteriorating. The male hormone itself and other mechanisms make germ cells out of the sperm form. A process is not fully understood, but more chromosomes can support it," the doctor says.

Therefore, at present, these patients are advised to extract and freeze sperm during puberty. At this point, 20% to 30% of men in Klinefelter produce sperm of sufficient quality for a woman, he says.

Others, with the development of experimental research, can fuel hopes. Or From there, it is advisable to maintain a testicular biopsy to maintain sperm or to preserve tissue to produce spermatozoa through cell differentiation in a tissue that we believe should be at least close. “

Stigma of Infertility

However, the main disadvantage of the genetic disorder for Manu is the result in the plane of love. "When he tells his partner you have Klinefelter's syndrome, he'il leave you."

Or And it's hard to get through this relationship after the relationship, “he says.


When the diagnosis was made, she had been in a relationship for four years. The girlfriend of the day accompanied her to get the results of the tests, and she was present when the doctor told them about the syndrome.

Itti At first he responded well, but he left very soon. Klinefelter said, ği I left because it was and I know it because I know it. K

Over the past 17 years Manu has established two more relationships. At first, he did not tell his partners that he had a syndrome and confessed that he had even thought of concealing this fact forever.

Although he had expected a one-year relationship in one case, before he counted the other one, both girls had rejected him. Or Most women want a child and I can't, “he says.

Isabel Quiles, a psychologist at Hebron Hospital, says that infertility creates a & very meaningful & stigmatization among patients affected by the syndrome.

Tut There is something they keep quietly and deep within themselves. Ekt They suffer a lot before they say they're suffering from Klinefelter, and they can't have children, K he says.

For most patients, the syndrome is their big secret. Olur They think, ğ When we go to the bedroom, what happens? When she sees that my penis is small … Many people reject the idea of ​​forming a relationship and finding a wife, imin says the psychologist.

Most patients wait until they become adults. "Sometimes they are looking for old partners who have more sexual experience, a larger dimension and are not so important. I have never talked about laughing at their genitals, I believe this expects a very balanced relationship. Before deciding to have sex," he says.


Family refusal

Often, as in Manu's case, discrimination begins with the people closest to him. Irıl If the family is somewhat primitive and sexist, the child is usually suppressed by the father who has to have a child with small sexual organs. (Shrink breasts), says Quiles.

Or They don't want everyone to know because they associate the syndrome with homosexuality, it's not really that, “he says.

Warning Signs

It is important to get the correct diagnosis before the first six months, because if the child gets the testosterone needed at this stage, it can prevent the results like micropenis, says endocrinologist Diego Yeste.

Isabel Quiles, a psychologist, adds that children with this disorder also tend to consume less energy and are little explorers of learning. In addition, they tend to present difficulties in socialization and may experience depression and marginalization during adolescence. It is therefore important to warn them early.

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

Manu is trying to reorganize himself to a support group like Katalora Klinefelter Syndrome (Ascatsk), where he found himself a few years ago. The idea is to meet other men with disorders, to share experiences.

She believes that having more information about the disorder will decrease prejudice. Or Most people are scared after hearing the first word: tan The syndrome, “he says.

Diego Yeste agrees. . When they tell them they have a syndrome and they have more chromosomes, people take their hands on their heads, I think fazla I'm a monster, “they think.

The doctor is willing to accept a name that softens the syndrome. Iyi There are other pathologies that cause more serious discomfort, and society is better tolerating them, “he says.

Klinefelter's syndrome is currently being diagnosed in Spain through amniocentesis, a test performed during pregnancy.

The test is performed with an amniotic fluid sample analyzed for genetic anomalies such as Klinefelter syndrome and others.

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