Tuesday , May 18 2021

A genetic disorder that affects genitalia and fertility

Manu was often given blood tests because he had type 2 diabetes, but only when he was 33 years old, one of them got the attention of a doctor.

"They found out I was menopause"This 50-year-old Spaniard is on the phone, explaining that analytics show that her fertility level was too low for her age.

He was referred to a clinic where the team of physicians practiced several tests before giving him a final diagnosis: he had additional sexual chromosome, in particular, additional X, a genetic condition called Klinefelter's syndrome in honor of the first doctor who described him, American Harry Klinefelter, in the 1940s.

The state that became his biggest secret. "At this time, you tell someone and the first thing they do is to laugh at you, it happened to me many times," he admits.

He did not tell his parents because they are "very old," his sister thinks that he invents it and does not speak to the little cousins ​​whom he believed because they started to see him "like a monster".

However, Klinefelter's syndrome is one of the most common genetic disorders among men: it happens 1 of 576, according to a study done by the Psychiatric Hospital in Aarhus in the early nineties in Denmark.

People have 23 pairs of chromosomes, and others determine our sex. In the case of women, it consists of two identical chromosomes (KSKS), and in the case of men, two different chromosomes (KSI).

But, like Manu, men with this syndrome have at least one Ks, which in most cases leads to karyotypes 47, KSKSI or, in rare cases, to karyotypes such as 48, XXX or 49, KSKSKS.

Therefore, Klinefelter syndrome is also referred to as KSKSI syndrome.

One of the main consequences is the lack of testosterone production, male sex hormones.

Manu's body, for example, not It generates it naturally by injecting them every month since they discovered the syndrome. He says that by that time he had never had a beard and that he had only raised his hair under the armpit.

"Surely you and I go on a daily street with two or three patients who have it and we do not know that," said Diego Ieste, head of the pediatric unit for endocrinology at the Vall d 'Hebron Hospital in Barcelona.

"The problem is that many people do not diagnose," he says. This is a state so little known that even some of those who suffer it, like Manu, do not even understand. He explains, for example, this way: "Physiologically, I am a human, but biologically, I am a woman."

The totally wrong idea, as it says, "With a chromosomal point of view and a sexual look, they are male. Not because you do not produce testosterone, you feel like a woman. This does not create the difficulty of sexual identification. This population does not have to have more problems with sexual identity than the rest. "

Physical consequences

With many men with Klinefelter, although not at all, genitals are not fully developed and remain smaller, making it difficult to produce testosterone.

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

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

Physical consequences can be treated. It explains that testosterone can be administered intramuscularly every two to three weeks or every six months, depending on the dose or even subcutaneously daily.

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

"The problem of these guys, who spontaneously start puberty while the testicle has not worsened, is that they have a higher risk of infertility because the male hormone itself and other mechanisms cause cell cells disappear, who are those who develop sperm. This is a process that we do not know well yet, but it can ease the surplus of chromosomes, "says the doctor.

So, it is currently recommended extract and freeze sperm during puberty, because at that time from 20 to 30% of these young people produce sperm with the quality needed for this, explains Ieste.

For the rest, there can still be hope in the experimental field: "It is recommended that a test biopsy be done to try to make sperm locally or well preserves the tissue so that they could then distinguish him in the future, which is believed to be close, get sperm. "

Stigma of infertility

However, for Manu, the main disadvantage of this genetic disorder is its consequences in a friendly manner: "As soon as you tell your partner that you have Klinefelter's syndrome, he leaves you."

"It's very difficult pass through a couple after a couple"

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

"At first, he reacted well, but then he went and went to Klinefelter because he told me," she remembers Manu.

In the past 17 years, he has tried to have a partner twice as much. Initially, he did not tell them that he had a syndrome and admitted that he thought about it the ability to hide it forever.

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

Although he hoped to have a year of connections in one case, and even two in the other, they both rejected him. "Most women want a child and I can not give them."

A Psychologist at Vall de Hebron Hospital, Isabel Kuiles, a minority illness unit, explains that Infertility creates a sense of stigmatization "very important" in this group.

"One thing is that they are very quiet and very inward … they spend a lot of pain before they say they have Klinefelter's syndrome and therefore can not have children."

For most, this disorder is their big secret. "They think:" When we get to the room, what will happen when she sees that I have small genitals "… They reject the decision to start a relationship and look for a confidential partner."

Many are waiting for an adult to start a woman. "Sometimes they are looking for older couples, with more sexual experience and already knowing that size is not that important, I did not say to anyone that they laughed in their genitals, I think it's because they expect to have a very stable relationship to start sex."

Rejection in the family

But, as in the case of Manu, discrimination often comes from the closest environment. "It's usually a family, especially a father, who stigmatizes this son a lot." If the family is a little primary and sexist, The father is wrapped up by his father, which is compounded by a child with small genitals, it is necessary to work with chests, "explains Kuiles.

"They do not want to know anyone because they connect him with homosexuality, when in reality it is not like that."

Warning signs:

Diagnosing a child before the first six months of life is important because if you get the testosterone you need during this phase, you can avoid the consequences like microenvironment, says endocrinologist Diego Eeste.

Psychologist Isabel Kuiles adds that children with these disorders often have an energy deficit and that they are small researchers, which has repercussions on learning. In addition, they usually pose difficulties in socializing and, in adolescence, can suffer from depression and marginalization. Therefore, you need to apply early stimulation.

It is advisable for pediatricians to pay attention to three warnings in childhood:

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

Manu is trying to reorganize a support group such as the one that helped the Catalan Association of Klinefelter Syndrome (Ascatsk) a few years ago to meet other men with this disorder in order to share experiences.

He believes that if people knew him more, the rejection would be reduced. "Most are afraid as soon as they hear the first word: syndrome," he says.

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

The doctor thinks that one more term should be sought to "track" this condition: "There are other pathologies that create It strives for disorders and society tolerates them better"

In Spain, Klinefelter syndrome is currently more and more due to amniocentesis, a test performed during pregnancy.

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

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