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Manu was often tested for blood because he had type 2 diabetes, but it was not until 33 years old that one of them caught the attention of doctors.
"They discover that I was menopausal .]" Says this spanish who is now 50 years old. This is his way of explaining that the badyzes indicated that his fertility level was too low for his age.
He was referred to a clinic where a team of doctors performed several tests before making the final diagnosis: he had a bad chromosome more specifically, an extra X, a genetic disorder called Klinefelter syndrome in honor of the first doctor who described him, the American Harry Klinefelter, in the 40s.
A disease become in its greatest secrecy. "At this age, you tell someone and the first thing they do is make fun of you, it happened more than once," she says. -he.
He did not say anything to his parents because "they are very old" Sister believes inventing it and no longer speaks to the few parents to whom she has entrusted because they began to see him "like a crackpot".
However, Klinefelter syndrome is one of the most common genetic disorders among men: given in 1 out of 576, according to a study conducted in Denmark by the Psychiatric Hospital of Aarhus in the early 90s.
Humans have 23 pairs of chromosomes and the latter determines our bad In women, it is composed of two identical chromosomes (XX) and, in men, two chromosomes different (XY).
But, like Manu, men with this syndrome have at least one more X, which in most cases leads to karyotype 47, XXY or, in rare cases, karyotypes such as 48, XXXY or 49, XXXXY.
Klinefelter's syndrome is therefore also named. XXY syndrome.
One of the main consequences is the insufficient production of testosterone, the male bad hormone.
Manu's body, for example, does not produce it naturally . so they inject it every month since they've detected the syndrome. He says that until then he had never had a beard and that he had barely sprouted under his armpits.
"You and I meet every day on the street with two or three patients who know it," says Diego Yeste, head of the hospital's Pediatric Endocrinology Unit. Vall d'Hebron in Barcelona.
"The problem is that many people do not get a diagnosis," he says. It's a disease so little known that even some of those who suffer from it, like Manu, do not understand it at all. For example, he explains as follows: "Physiologically, I am a man, but biologically, I am a woman".
A totally false idea, as Yeste says: "From a chromosome and badual point of view, they are male. It's not because you do not produce testosterone that you You will feel like a woman This does not create difficulties in badual identification.This population does not necessarily have to have more problems of badual identity than the others. "
Physical Consequences
] In many men with Klinefelter, but not all, the bads do not fully develop and they become smaller, which hinders the production of testosterone.
As a result, bads may develop more than normal and puberty may be delayed or even not occur.
Given the low production of hormones, fertility is affected . In addition, they are more likely to develop type 2 diabetes, blood clots, involuntary tremors, bad cancer, osteoporosis, rheumatoid arthritis and lupus, according to the National Library of Medicine of the United States .
The physical consequences can be treated. Yeste explains that testosterone can be administered intramuscularly every two or three weeks or every six months, depending on the dose, or even subcutaneously.
If the syndrome is detected early, infertility can also be stopped.
"The problem of these boys, who initiate puberty spontaneously until the testicle deteriorates, is that they run a higher risk of being sterile because the hormone male and other mechanisms cause the disappearance of germ cells which are the ones that develop sperm, is a process that we do not yet know very well, but the excess of chromosomes can facilitate it ", explains doctor.
It is therefore recommended to extract and freeze the sperm during puberty because at this age, between 20% and 30% of these young produce sperm of the necessary quality, says Yeste.
For the rest there may still be hope in the experimental field: "It is recommended to do a testicular biopsy to try to obtain the sperm locally or to preserve the tissues then be able to differentiate them and in the future, get a close sperm "
The stigma of infertility
For Manu, however, the main disadvantage of this genetic disease is its love consequences: "As soon as you tell your partner that you have Klinefelter syndrome, he leaves you"
"And it is very difficult to go through this couple after partner . "
When he was diagnosed, he had been in a relationship for four years. His girlfriend accompanied him to receive the test results and was present when the doctor explained what was the syndrome.
"At first he reacted well, but then he left and went to Klinefelter because he told me". , recalls Manu.
In the last 17 years, he has tried twice more to have a partner. At first he did not tell them that he had the syndrome and confessed that he had come to think of the possibility of hiding it forever .
"But you wonder then:" If he likes me, he will accept it. "you say it and, speaking badly, it sends you to hell."
Although he was expecting to have a year of relationship in one case and even two in the other, he rejected it. "The majority of women want a child and I can not give it to them."
Psychologist of the Minority Disease Psychology Unit at Vall d'Hebron Hospital, Isabel Quiles, explains that infertility creates stigma feeling " very important "in this group.
"It's something they keep very quiet and very inside … They go through a lot of anguish before saying that they suffer from Klinefelter syndrome and therefore they can not have "
For the most part, this disorder is their big secret. "They think:" When we get to the room, what will happen next, when she sees that I have small bads? … They reject the decision to launch and find a circumstantial partner. "
Many wait until adulthood. to start dating with women. "Sometimes they are looking for older couples, with more badual experience and they already know that size is not that important, no one has ever told me that they have mocked of their bads, I think it's because they expect to have a very stable relationship start having bad. "
Rejection in the family
But, as in the case of Manu, discrimination often comes from the nearest environment. "It is usually the family itself, especially the father, who stigmatizes this son a lot." If the family is a little primal and badist, usually the child is frowned upon by the father who is very self-possessed "A son with small bads, who must be operated on the bad" says Quiles.
"They do not want anyone to know it, because they badociate it with homobaduality, whereas in reality it is not like that".
It is important to diagnose the child before the first six months of life, because if you receive the testosterone you need at this stage, you can avoid the consequences similar to a micropenis, says the endocrinologist Diego Yeste.
Psychologist Isabel Quiles adds that children with this disorder can often have an energy deficit and that they are bad scouts, which has an impact on learning. In addition, they generally have socialization difficulties and, in adolescence, may experience depression and marginalization. For this reason, early stimulation must be applied.
Yeste recommends that pediatricians pay attention to three early signs of childhood:
- Excessive growth in the early years of life
- Minor bad abnormality: as a small penis or less developed scrotum.
- Language Disorders and Learning
Manu attempts to organize a support group such as one who helped the Catalan Association of Klinefelter Syndrome (Ascatsk) to meet there a few years to meet. with other men with this disorder to share their experiences.
He believes that if people knew him better, the rejection would be reduced. "Most people are scared when they hear the first word: syndrome," he laments.
Diego Yeste is of the same opinion: "When they are told that it is a syndrome and that they have more chromosomes, people put their hands in their heads. "I am a monster" and they are not. "
The doctor thinks that we must look for another term to" soften "this condition:" There are other pathologies that generate ] more serious disorders and society tolerates them better . "
In Spain, Klinefelter syndrome is increasingly diagnosed through amniocentesis, a test performed during pregnancy.
A sample of the amniotic fluid is taken, which is badyzed to detect genetic alterations such as this. Faced with a serious abnormality of the fetus, the mother can request an abortion during the first 22 weeks.
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