Tuesday , March 21 2023

Genetic disorder that affects the genitals and fertility


Manu often given the blood tests because they had type 2 diabetes, but it was not until 33 years had one of which gained the attention of doctors.

"They discovered that I was menopausal"This Spanish & # 39; 50 are on the phone, and explained that the analysis showed that the level of & # 39; her fertility was too low for her age.

He was referred to a clinic where a team & # 39; doctors practiced earlier tests did not give a final diagnosis: he had chromosome & # 39; over sex, specifically, unnecessary X, a genetic condition called Syndrome & # 39; Klinefelter in honor of the first doctor ddeskrivieth, the American Harry Klinefelter, in 40s.

Condition became his biggest secret. "F & # 39; this age, tell someone and the first thing you do is laugh, it happened more than once," he loves.

It does qalilx his parents as "very old", his sister thinks it ingests and m & # 39; still talking with a few relatives to whom is fdaq started to see it "as a weirdo".

However, the syndrome & # 39; Klinefelter is one of the most common genetic disorders among men: in place 1 in 576, according to a study carried out in Denmark in the early nineties by Psychiatric Hospital & # 39; Aarhus.

Humans have 23 pairs of & # 39; chromosomes and would determine our gender. In the case of women, is composed of two identical chromosomes (XX) and, in the case of men, two different chromosomes (XY).

But, like Manu, men with & # 39; this syndrome have at least X more, in & # 39 most cases leads to kariotip 47, XXY or, in & # 39; rare cases, a kariotipi like 48, XXXY or 49, XXXXY.

Thus, the syndrome & # 39; also called Klinefelter syndrome & # 39; XXY.

One of the main consequences is the decline in production of testosterone, the male sex hormone.

The body & # 39; Manu, for example, not it generates b & # 39; natural way so they jinjettawha monthly since discovering syndrome. He says that until then, he never had a beard and was just grew some hair under the armpits.

"Surely you and I share a day on the road with & # 39; two or three patients with this and we do not know," says Diego Yeste, head & # 39; the pediatric endokrinoloġika unit at Vall Hospital d & # 39; Hebron , f & # 39; Barcelona.

"The problem is that most people do not get diagnosed," he says. It is so little known condition that even some of those who suffer from it, like Manu, fail to understand. It is, for example, jispjegah b & # 39; this way: "Physiologically, I'm a man, but biologically, I'm a woman".

totally wrong idea, as Yeste said: "From a chromosomal sex and appearance, are male. Not because they do not produce testosterone you're going to feel like a woman. This does not create difficulties & # 39; sexual identification. This population m & # 39; should not have more problems & # 39; sexual identity from the rest. "

physical consequences

F & # 39; many men with Klinefelter, though not all, the – Genital not fully develop and stay younger, disrupting the production of & # 39; testosterone.

As a result, the breasts can & # 39; grow abnormally and puberty can & # 39; delayed or even not occur.

Due to the low production of & # 39; hormones, fertility is affected. In addition, have a higher risk of developing type 2 diabetes, blood clots, involuntary shaking, breast cancer, osteoporosis, rheumatoid arthritis and lupus, according to the National Library of Medicine, USA.

The physical consequences can be treated. Yeste explains that testosterone can & # 39; administered intramuscularly every two or three weeks or every six months, according to the dose, or even & # 39; daily subcutaneously.

If the syndrome is found early, sterility can & # 39; and stopped.

"The problem & # 39; these guys, to start puberty by & # 39; spontaneous until testikulu deteriorate, is to have a higher risk of being infertile because hormone male himself and other mechanisms cause certificates of germ cells disappear, They are the ones developing sperm. It is a process that we still do not know very well but the excess of & # 39; & # 39 chromosome can; facilitate it, "says the doctor.

So, at present, it is recommended pull and freeze sperm during puberty, Since f & # 39; that age, between 20% and 30% & # 39; these people produce a quality sperm required for this, explains Yeste.

For the rest can & # 39; there is hope in the experimental field "is worth making to try to get testicular biopsy sperm or locally well 'to preserve tissue and then you can & # 39; differentiates and in the future, it is believed close, get sperm. "

The stigma & # 39; infertility

For Manu, however, the main disadvantage of & # 39; this genetic disorder is its impact on the love plan: "As soon as you tell your partner that you Syndrome & # 39; Klinefelter, he abandons. "

"And it is very difficult go through & # 39; that the couple after couple"

When he was diagnosed, had a relationship for four & # 39; years. his girlfriend accompanied him to receive the results of tests and was present when the doctor explained what it consisted of the syndrome.

"First, reacted well, but then left and went Klinefelter to us," recalls Manu.

In the past 17 years, he tried to have two more partners. At first, he had not qalilhomx syndrome and loves coming to think about the possibility to hide forever.

"But then you ask yourself," If loves me, he will accept it. "" So you say and talk badly, he will send you to hell. "

Although he asked to take a year & # 39; & # 39 in relationship, even one case and two in the other, both irrifjutawha. "Many women want children and can not give them."

The psychologist Unit of Psychology of Minority Diseases Hospital Vall d & # 39; Hebron, Isabel QUILES, explaining that Infertility create a sense of & # 39; stigmatization "Very important" in & # 39; this group.

"It is one thing they keep very quiet and very inside … They spend a lot of anguish before say that they & # 39 syndrome, Klinefelter and therefore can not have children."

For many, this disorder is their big secret. "They think:" When we come to the room, x & # 39; is happening, when you see a small genital I "… They reject the decision to launch circumstantial partner relationship and look."

Many wait until adulthood to get women to go. "Sometimes they look older couples, b & # 39; increased sexual experience and already know that size is not so important, you have not told anyone he wanted on their genitals, I think it is because they expect to have a very stable relationship to start keyword. "

Disclaimer family

But, as in the case of & # 39; Manu, this is often the nearest environment discrimination. "It's usually the family itself, especially the father, the son stigmatizza to this much." If the family is somewhat primary and sexist, the child is touched by father, Which is complex to have children with & # 39; small genitalia, it is necessary to breast employer ", explain to QUILES.

"They do not want anyone to know why associating with & # 39; homosexuality, when in reality it is not so."

Signs & # 39; warning:

The diagnosis of the child prior to the first six months of life is important because if you have testosterone that you need at that stage, you & # 39; to avoid consequences like mikropeni, says Diego endocrinologist Yeste.

The psychologist Isabel QUILES adds that children suffering from this disaster can often have an energy deficit and are little explorers, which have repercussions on learning. Moreover, they generally present difficulties in socializing and, in adolescence, may suffer from depression and marginalization. This is why you apply early stimulation.

Yeste recommends doctors watch out for signs of three & # 39; warning during childhood:

  • Excessive growth in the first years of life.
  • Minor genital anomalies: a small penis or scrotum less developed.
  • Language disorders and learning.

Manu is trying to reorganize group & # 39; such support that helped the Catalan Association Syndrome & # 39; Klinefelter (Ascatsk) a few years ago to enable & # 39; & # 39 meet; with & # 39; other people who have this disorder to share experiences.

He believes that if people know him more, rejection is reduced. "The majority are afraid to listen as the first word: syndrome", he regrets.

Diego Yeste agrees: "When it is said that more chromosome syndrome, people put their hands on their heads, I think they think:" I am a monster "and not."

The doctor thinks that another term should be asked to "release" this condition: "There are other pathologies that generate more severe disorders and a better society jittollerahom"

In Spain, currently, syndrome & # 39; Klinefelter diagnosed more and more thanks to amniocentesis, a test performed during pregnancy.

It extract sample of amniotic fluid, which is analyzed to detect genetic alterations like this. A serious anomaly in the fetus, the mother can & # 39; requesting an abortion during the first 22 weeks.

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