The genetic disorder that affects the genitals and fertility



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Manu was often given blood tests because he had type 2 diabetes, but it was not until he was 33 that one of them caught the attention of doctors.

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

He was referred to a clinic where a team of doctors practiced more tests before giving him the final diagnosis: he had an extra sex chromosome, specifically an extra X, a genetic condition called Klinefelter syndrome in honor of the first doctor who described him, American Harry Klinefelter, in the 1940s.

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

He did not tell his parents because "they are very old," his sister thinks he invents them and no longer talks to the few relatives he trusted because they began to see him "like a weirdo."

However, Klinefelter's syndrome is one of the most frequent genetic diseases among men: it occurs in 1 out of 576, according to a study done in Denmark in the early 1990's by the Aarhus Psychiatric Hospital.

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

Thus, Klinefelter syndrome is also 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, not generates naturally so they inject every month since they detected the syndrome. He says that by then he had never had a beard and had just grown a little hair under his armpits.

"Certainly you and I cross the street everyday with two or three patients who have and we do not know," says Diego Yeste, head of the pediatric endocrinology unit at Vall d'Hebron Hospital in Barcelona.

"The problem is that a lot of people are not diagnosed," he says. It is a condition so little known that even some of those who suffer, like Manu, do not understand anything. He explains, for example, "Physiologically, I am a man, but biologically, I am a woman."

A totally wrong idea, as Yeste says: "From a chromosomal point of view and sexual appearance, they are masculine. Not because you do not produce testosterone, you will feel like a woman. This does not create difficulties of sexual identification. This population does not need to have more sexual identity problems than the rest. "

Physical consequences

In many men with Klinefelter, although not at all, the genitalia do not develop completely and they get smaller, which hampers the production of testosterone.

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

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

The physical consequences can be dealt with. Yeste explains that testosterone can be administered intramuscularly every two to three weeks or every six months, depending on the dose, or even daily subcutaneously.

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

"The problem with these guys, who begin puberty spontaneously until the testicle deteriorates, is that they have a greater risk of being infertile because the male hormone itself and other mechanisms cause the germ cells disappear, which are the ones that develop sperm. It's a process we still do not know very well, but excess chromosomes can make it easier, "says the doctor.

So at the moment it is recommended extract and freeze sperm during puberty"Since that age, between 20% and 30% of these young people produce spermatozoa with the necessary quality for this," explains Yeste.

For the rest there may still be hope in the experimental field: "It is recommended to do a testicular biopsy to try to get sperm locally or well preserve the fabric to be able to differentiate it and, in the future, that is believed next, to obtain semen ".

The Stigma of Infertility

For Manu, however, the main drawback of this genetic disorder is its consequences on the love plane: "As soon as you tell your partner that you have Klinefelter's syndrome, he leaves you."

And it's very difficult pass this couple after marriage"

When he was diagnosed, he was in a relationship four years ago. His girlfriend accompanied him to receive 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 left and went to Klinefelter because he told me," Manu recalls.

For the past 17 years, he has tried to have a partner two more times. At first, he did not tell them that he had the syndrome and confesses that he even thought of possibility of hiding it forever.

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

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

Psychologist at the Psychology Unit of Minority Diseases at the Vall d'Hebron Hospital, Isabel Quiles, explains that Infertility creates a sense of stigmatization "very important" in this group.

"It's something they keep very quiet and very in … They spend a lot of anguish before saying they have Klinefelter syndrome and therefore can not have children."

For most, this disorder is their great secret. "They think," When we get to the bedroom, what will happen when she realizes that I have small genitalia … They reject the decision to start a relationship and look for a circumstantial partner. "

Many wait until adulthood to start dating women. "Sometimes they look for older couples with more sexual experience and they already know that size is not so important, they have not told anyone that they laughed at their genitals, I think it's because they expect to have a very stable relationship to begin with to have sex. "

Rejection in the family

But, as in Manu's case, discrimination usually comes from the closest environment. "It is usually the family, especially the father, who stigmatize this child very much." If the family is a bit primitive and sexist, the child is frowned upon by the father, which is complex to have a child with small genitals, which is necessary to operate it on the breasts, "explains Quiles.

"They do not want anyone to know why they associate it with homosexuality, when in fact it is not."


Warning Signs:

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

Psychologist Isabel Quiles adds that children with this disorder may often have an energy deficit and that they are small exploiters, which impacts on learning. In addition, they usually present difficulties in socialization and, in adolescence, they may suffer from depression and marginalization. That is why you have to apply early stimulation.

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

  • Excessive growth in the first years of life.
  • Minor 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 be able to meet other men with this disorder to share experiences.

He believes that if people knew him better, rejection would be reduced. "Most people get scared when they hear the first word: syndrome," he laments.

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

The doctor thinks that another term must be sought to "sweeten" this condition: "There are other pathologies that generate serious disturbances and society tolerates them better."

In Spain, currently, Klinefelter syndrome is increasingly diagnosed thanks to amniocentesis, a test performed during pregnancy.

A sample of the amniotic fluid is drawn, which is analyzed for genetic changes like this. Faced with a serious anomaly in the fetus, the mother can request an abortion during the first 22 weeks.


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