Tuesday , December 1 2020

Genetic disorder affecting genitalia and fertility



Manu was often given blood tests because he had type 2 diabetes, but only at the age of 33 one of them received the attention of doctors.

"They found I was menopause"This 50-year-old Spaniard is on the phone, explaining that analytical data suggests that the fertility rate is too low for his age.

He was taken to a clinic where a team of doctors practiced more tests before giving him the final diagnosis: he had an extra sexual chromosome, in particular an additional X, a genetic disease called Klinefelter's syndrome in honor of the first doctor who described it, the American Hari Kleinfelter, in the 1940s.

A state that has become his greatest secret. "At this age you tell someone and the first thing they do is laugh at you, it has happened to me more than once," he admits.

He did not tell his parents because "they are very old," his sister thinks he invented it and no longer talks to the few relatives he trusted because they started seeing him "strangely."

Klingelter syndrome, however, is one of the most common genetic diseases among men: this occurs in 1 of 576, according to a study done in Denmark in the early 1990s by the Aarhus Psychiatric Hospital.

People have 23 pairs of chromosomes, and the latter determines our sex. In the case of women, it consists of two identical chromosomes (XX) and, in the case of men, two different chromosomes (XY).

But, like Manu, the men with this syndrome have at least another X, which in most cases leads to karyotype 47, XXY or rarely to karyotypes such as 48, XXXY or 49, XXXXY.

Therefore, Klinefelter's syndrome is called XXY syndrome.

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

Manu's body, for example, no it generates it naturally so they injected it every month since they discovered the syndrome. He says he had never had a beard before, and just grew up under his armpits.

"Of course, we and I are crossing every day on the street with two or three patients who have it and we do not know it," said Diego Este, head of the children's endocrinology unit at Val d'Hebron Hospital in Barcelona.

"The problem is that many people are not diagnosed," he says. This is so little known that even some of those who suffer, like Manu, do not even understand it. He, for example, explains it in the following way: "Physiologically, I am a man, but biological, I am a woman."

An extremely bad idea, as Iste says: "From a chromosomal point of view and a sexual appearance they are masculine. Not because you do not produce testosterone, you will feel like a womanThis does not create difficulties in sexual identification. This population should have no more problems with sexual identity than others. "

Physical consequences

In many people with Kleinfelter, though not all, genitals do not develop completely and they remain smaller, making it difficult to produce testosterone.

As a result, breasts can grow more than normal and puberty may slow down or even not appear.

Given the low production of hormones, fertility is affectedIn addition, they have a higher risk of developing type 2 diabetes, blood clots, involuntary tremors, breast cancer, osteoporosis, rheumatoid arthritis and lupus, according to the United States National Medical Library.

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 daily.

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

"The problem of these boys, who start spontaneous puberty while the testicles get worse, is that they have a higher risk of being infertile because the male hormone itself and other mechanisms cause germ cells disappear, who are the ones who develop sperm. This is a process we do not know very well yet, but the excess of chromosomes can make it easier, "says the doctor.

So, it is currently recommended extraction and freezing of semen during puberty, because at this age between 20% and 30% of these young people produce sperm of the required quality for this, Yeste explains.

For the rest, there may be hope in the experimental area: "It is recommended to do a testicular biopsy to try to get sperm on the spot or well-preserved tissues so that he can distinguish it in the future, which is considered close, to receive semen. "

Stigma of infertility

For Manu, however, the main drawback of this genetic disorder is its consequences for the love plan: "As soon as you tell your partner that you have Kleinfelter's syndrome, he abandons you."

– And it's very difficult go through this pair after pairing".

When he was diagnosed he was in a relationship for four years. His girlfriend accompanied him to get the results of the tests and was present when the doctor explained what the syndrome was.

"He initially responded well but then he left and went to Kleinfelter because he told me," Manu recalls.

Over the past 17 years he has been trying to have a partner twice as much. At first he did not tell them he had a syndrome and admitted he had come to think of him opportunity to hide it forever,

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

Although he hoped to take one year's relationship in one case and even two in another, they both rejected it. "Most women want a child and I can not give them to them."

The psychologist from the Psychological Unit for Minority Diseases at Val d'Hebron Hospital, Isabelle Quyles explains that Infertility creates a sense of stigmatization "very important" in this group.

"This is one thing that keeps you very quiet and very much inside … They are very tormented before they say they have Klinefelter syndrome and therefore can not have children."

For most, this disorder is their big secret. "They think," When we get to the room, what happens when I see that I have small genitals "… They reject the decision to start a relationship and look for sympathetic partners."

Many are waiting for adulthood to start giving birth to women. "Sometimes they are looking for older couples with more sexual experience and they already know that the size is not so important, no one told me they laughed at their genitals, I think this is because they expect a very stable a relationship to start having sex. "

Family rejection

But, as in the case of Manu, discrimination often comes from the closest environment. "Usually the family, especially the father, very rarely stigmatizes this son." If the family is a bit primary and sexist, the child frowned at the father, which is complicated to have a child with small genitals that you need to manage it from your chest, "explains Quelle.

"They do not want anyone to know because they associate it with homosexuality when it is not."


Warning signs:

The diagnosis of the child before the first six months of life is important, because if you get the testosterone you need at this stage, you can avoid the effects of micronutrients, says endocrinologist Diego Este.

Psychologist Isabel Qualls adds that children with this disorder often have energy deficiency and that they are few researchers, which has implications for learning. In addition, they usually encounter difficulties in socialization, and in adolescence they may suffer from depression and marginalization. That is why you need to apply early stimulation.

Yeste recommends pediatricians to pay attention to three warning signs during childhood:

  • Excessive growth during the first years of life.
  • Minor purulent anomaly: like a small penis or a less developed scrotum.
  • Disorders of language and learning.

Manu attempts to reorganize a support group like the one who helped the Catalonian Association of Klinefelter syndrome (ASK) a few years ago to meet other men with this disorder to exchange experience.

He believes that if people know him more, the rejection will be reduced. "Most are afraid of hearing the first word: syndrome," he complains.

Diego Truth agrees, "When they say that it's a syndrome and they have more chromosomes, people put their hands on their heads, I think they think," I'm a monster, and they're not. "

The doctor believes that another term should be sought to "sweeten" this condition: "There are other pathologies that generate more serious violations, and society tolerates them better".

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

A sample of the amniotic fluid is extracted, which is analyzed for genetic changes such as this. Faced with a serious anomaly in the fetus, the mother may ask for abortion during the first 22 weeks.



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