Monday , June 27 2022

Genital and fertility-affecting genetic disorder


A blood test was performed because Manu was usually of two types of diabetes patients, but one of the doctors had nothing to do with being 33 years old.

"They discovered I was menopausal"This 50-year-old Spanish phone explains that analytics shows that the level of fertility is too low for his age.

A physician team was referred to a clinic where he had more tests before giving a final diagnosis: an extra sex chromosome, especially an extra X, had a genetic condition Klinefelter syndrome In honor of the first doctor who described this, the American Harry Klinefelter in the 40's.

It's a situation that has become her biggest secret. Or In this age, you're talking about laughing at someone and the first thing you do, more than once,, he confesses.

She did not mention to her parents that she was ab very old, eye and her sister thinks she believes in her and now doesn't speak to a few relatives that she is certain of, since they now see it as an ın oddity Eb.

However, Klinefelter syndrome is one of the most common genetic disorders in men: 1 in 576 According to a study by the Aarhus Psychiatric Hospital in Denmark in the beginning of the 90's.

People have 23 pairs of chromosomes and the second determines our gender. Women have two identical chromosomes (XX) and two different chromosomes (XY) in men.

However, there are at least one X in men with this syndrome, such as Manu, which leads to karyotypes in most cases such as karyotype 47, XXY, or in rare cases 48, XXXY or 49. XXXXY.

Therefore, Klinefelter syndrome is also called XXY syndrome.

One of the main results is the lack of testosterone production, which is a male sex hormone.

For example, Manu's body no produces naturally They inject it every month because they detect the syndrome. Until then, he says, he never has a beard and only a few hairs on his underarms.

End Certainly, you and I have two or three patients on the street every day and we don't know that, başkan says Diego Yeste, president of the pediatric endocrinology unit at the Vall d'Hebron Hospital in Barcelona.

Or The problem is that many people are not diagnosed, “he says. It is known that little people, like Manu, cannot understand it. For example, he explains in this way: "Physiologically, I am a man, but biologically a woman".

It's a completely wrong idea, as Yeste says: "From a chromosomal point of view and sexual appearance, they are masculine. You will feel like a woman for not producing testosterone. This does not create any difficulty in sexual identity. This population does not have to have more sexual identity problems than others. "

Physical results

Many men in Klinefelter, not all of them, sexual organs are not fully developed and they block the production of testosterone.

As a result, the breasts can grow more than normal, and puberty may be delayed or may not even occur.

Given the low production of hormones, Affected by fertility. In addition, according to the National Library of the United States of America, type 2 diabetes, blood clots, involuntary shivering, breast cancer, osteoporosis, rheumatoid arthritis and the risk of developing lupus is higher.

Physical results can be treated. Lighter, testosterone, every two or three weeks or every six months, dose-dependent or even daily can be applied subcutaneously.

If the syndrome is detected early, sterility can also be stopped.

"The problem of these men who have spontaneously started puberty until the testicle is broken is more likely to be infertile because the male hormone causes itself and other mechanisms. seed cells disappearThese are the ones who developed sperm. This is a process we still don't know very well, but the excess of chromosomes can make it easier, çok says the doctor.

So, at this time, it is recommended sperm extract and freeze during adolescenceSince this age, 20% to 30% of these young people produce sperm with the quality they need.

For the rest it can still hope in the experimental field: "Testicular biopsy is recommended to try the sperm locally." good texture protect To be able to distinguish it later and to get the sperm believed in the near future.

Infertility Stamping

But for Manu, the main disadvantage of this genetic disorder is their consequences on the love plane: “When you tell your partner you have Klinefelter's syndrome, he leaves you. Ancak

"And very difficult couple then go over this couple".

When the diagnosis was made, she had been in a relationship for four years. Her girlfriend accompanied her to get the results of the tests, and she was present when the doctor explained why the syndrome had occurred.

. He reacted well at first, but then he told me because he went to Klinefelter, başta Manu remembers.

In the last 17 years he tried to be his partner twice more. At first, he did not say that he had the syndrome and confessed that he had begun to think. Possibility to hide forever.

. But then ask yourself, “If he loves me, he will accept. Ehenn gönder So you say, and he speaks badly, he's sending you to hell. "

Although one year in one case and even one year in the other, they both refused. "Most women want a child and I can't give them to them."

Isabel Quiles, psychologist of Minority Diseases Psychology Unit of Hebron Hospital, Vall. Infertility creates a sense of stigma In this group "very important".

”They are very quiet and very much inside geçir They suffer a lot of suffering before they tell me that they have Klinefelter syndrome and therefore cannot have children.“

For most, this disorder is their big secret. Lar They think: lı When we come to the room, when I see what will happen, when I have a small genitalia imiz They refuse to decide a relationship and are looking for a conditional partner. "

Most of them start dating women until adulthood. "Sometimes they are looking for older couples, they have more sexual experience and they know that their size is not so important, I didn't tell anyone that they laughed at their genitals, I think to start having sex because they hope to have a very balanced relationship.

Family refusal

However, as in the case of Manu, discrimination usually comes from the closest environment. Ise This is usually the father who stamps the family, especially that child too much. Özellikle If the family is a bit primitive and sexist, Child frowned by his fatherThis is complicated to have a child with small sexual organs, it's necessary to have her breasts run, "Quiles explains.

”They don't want anyone to know because they associate it with homosexuality, not really. Ini

Warning Signs:

It is important that the child is diagnosed before the first six months of life, because if you take the testosterone you need at this stage, you can avoid the consequences like micropenis, says endocrinologist Diego Yeste.

Psychologist Isabel Quiles adds that children with this disorder can often have an energy deficit and are little explorers that are echoing in learning. In addition, they often experience difficulties in socialization and may experience depression and marginalization during adolescence. That's why you need to apply early warning.

Yeste recommends that pediatricians pay attention to three warning signs in childhood:

  • Extreme growth in the early years of life.
  • Small genital anomaly: a small penis or less developed scrotum.
  • Language and learning disorders.

Manu is trying to reorganize a support group that helped a few years ago with Kainlan Klinefelter Syndrome (Ascatsk) to share their experiences to meet other males with this disorder.

He believes that if people know him better, rejection will be less. "The most afraid of hearing the first word: syndrome," he shouts.

Diego Yeste, "When you are told that you have a syndrome and you have more chromosomes, when people put their hands on their heads, I think:" I am a monster "and they are not."

The doctor believes that another term is also being sought to "sweeten" this situation: "There are other pathologies that occur. more severe illnesses and society better tolerate them".

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

A sample of amniotic fluid is removed; this is analyzed to detect genetic changes such as this. Faced with a serious anomaly in the fetus, the mother can request an abortion for the first 22 weeks.

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