Health Syndrome XXY, the genetic disorder that affects the breeding and fertility of people Technology and science | Science


Often, blood tests were given to Manu because he had a type 2 diabetes, but it was not until he was 33 years old and one of them got the doctor's attention.

"They found out that I was a deception of marriage," said the Spanish spokesman, who is now 50 years old. The way it is explained is that the studies show that their degree of nutrition is too low for their age.

He was taken to a clinic where a team of doctors tried to do more tests before taking the last test: he had a special cryososome species, in addition, an additional X, a genetic position called Klinefelter Syndrome in honor of the first doctor who talked about, Harry Klinefelter American, in the 40s.

Covenant that became the largest mystery. "At this age, you tell someone and their first thing you smile, it has happened more than once," he admits.

He did not tell his parents because they are very old, "his sister thinks he is creating it and is not now talking to the few friends he has put He expressed it because they started seeing it "as something. "

However, Klinefelter syndrome is one of the most common genetic problems among men: it's happening 1 out of 576, according to a survey conducted in Denmark in the early 90's with the Airhus Psychiatric Hospital.

The people have 23 pairs of chromosome and the final ones confirm our species. In the case of a woman, it is made of two chromosome (XX) equivalent and, in the case of men, two different chromosome (XY).

However, like Manu, men with this syndrome have at least one other X, which is a 47, XXY or a sexy couple, in rare cases, to genres such as 48, XXXY or 49, XXXXY.

So, the "name syndrome" is the Klinefelter syndrome name.

One of the main effects of the deficiency in testosterone, is the sex hormone.

Manu's body, for example, it does not generate it naturally so they set them every month since they found the syndrome. He says he never had a beard and then got hair under the tools.

"Surely you and I go across the street every day with two or three patients with it and we do not know," said Diego Yeste, head of unit parental neurology at the Hebron Vall Hospital in Barcelona.

"The problem is that many people do not get a judgment," he says. It is a matter of fact that even some of the people who have suffered it, such as Manu, do not know what; understand at all. He, for example, tells how he is: "In terms of psychology, I am a man, but I am a woman".

There is a totally wrong idea, as Yeste says: "With regard to chromosomal and sexual appearance, they are male. Not because you do not testosterone that you are doing; going to feel like a woman. This does not create problems for sexual identity. This population does not have to have more sexuality problems than the rest. "

— Corporate outcomes —

In many men with Klinefelter, though not, the generations do not come to full development and they'll be living less, who's preventing testosterone.

As a result, the shoes can grow larger than usual and the servant may be delaying or not occurring.

With a small amount of hormone, there is an impact on fertility. In addition, they have a higher risk of developing type 2 diabetes, clots of blood, unthinkable quizzes, chronic cancer, osteoporosis, reusato arthritis and lupus, according to the National Library United States Medical.

The physical effects can be addressed. Yeste explains that testosterone can be given in full every two to three weeks or six months, depending on the dose, or even daily.

If the syndrome is detected early, a problem can be stopped.

"The problem of those people, who start puberty willingly to make the test worse, have a greater risk of being abnormal as the male hormone and other ways cause the sharp cells disappear, who develops sperm. It is a process that we are not yet familiar with but the rest of chromosomes can be made possible, "said the doctor.

So, at the moment, it is a recommendation sweeping and sparkling frost during the garden, at that age, between 20% and 30% of those young people will do sperm with the required status for this, and # 39; Yeste definition.

For more info, There may be hope in the experimental area: "A testicular biopsy is proposed to get sperm locally or well preserved so that it can then be differentiated and in the future, which is believed near, get sperm. "

— Stigma ana-fulangas —

But for Manu, however, the main problem of this genetic disorder is its impact; He has loved his love: "As soon as you tell your partner that you have a Klinefelter syndrome, it abandons it."

"And it's really hard go through that couple after her & # 39; couple"

When it was confirmed that he had been in relation for four years. Her lover was with him to find the test results and was present when the doctor explained what was in the syndrome.

"First, he answered well, but then disappeared and went to Klinefelter because he said to me" he remembers Manu.

In the last 17 years, he tried to have a partner twice more. First, he did not tell them that he had the syndrome and acknowledged that he was thinking in the ability to fight it forever.

"But then you ask yourself," If he likes me, he will accept it. "" So you say it and, speaking badly, helps you hell. "

Although he hoped to take a year of affair in one case and even two in the other, both of them refused. "Most women want a child and I can not give them."

The Psychologist Unit of the Illness Psychology Unit at Hebron's Hospital, Hebron, Isabel Quiles, explains that Inability to create a sense of disrepair "This is very important" in this group.

"One thing they keep is quite quiet and well … They wear a lot of grief before telling them that Klinefelter has a syndrome and so children do not them. "

For the most part, this problem is a great secret. "They think:" When we reach the room, what happens, when I see that I have a small genitalia … "They deny the relationship decision to launch and watch for a responsible partner. "

Many wait until they are adventure for women to "Sometimes they look for older couples, with more sexual experience and they already know that size is not so important, I have not told them that they have been laughing at their generations , I think it's because they expect them to have a strong relationship to get started. "

— Family filing —

But, as it is in the case of Manu, sexual discrimination often comes from the nearest environment. "Usually the family itself, especially the father, who expresses his son on this son". If the family has a little first sight and sex, the father is injured on his / her child, it's complicated to get a child with basic species, it is essential to be used in the sorrow … ", and Quiles definition.

"They do not want to know anyone because they are linked to homosexuality, when it is not like that."

Warning signs:

Confirming the child is over six months of important life because you can test the testosterone. You need at that stage, you can avoid the effects of microbes, saying that the endocrinologist Diego Yeste will give.

Isabel Quiles psychologist says that children with this disorder often have an adverse effect on the children and are only researchers who have an impact on learning. In addition, they usually appear to have problems in socialization and, in youth, they can be in a position, suffering from depression and fringe. That's why you need to enter an early entry.

Yeste recommends that peasants have a " taking into account three warning signs during childhood:

– Multiplication of growth in the first year of life.
– Inherent minority: such as an unexplained fragment or scrotum.
– Language and learning difficulties.

Manu is trying to reorganize a support group such as those who helped the Klinefelter Syndrome Catalan Association (Ascatsk) been in recent years to meet other men with this disorder to share knowledge.

He believes, if people knew more, would not be rejected. "Most people are scared as soon as they hear their first word: syndrome," it's a & # 39; mourning.

Diego Yeste agrees: "When they are told that it is a syndrome and they have more chromosomes, people who put their hands on their heads, I think they are thinking: & # 39; I'm a monster and not. "

The doctor believes that another term should be sought for "sweet" in this situation: "There are other pathways that generate tcrimes are less serious and social and social; make them better"

In Spain, at this time, it is confirmed that Klinefelter syndrome is a Increasingly, Amniocentesis is given an appreciation, a test that will be done when it is heavy.

A sample of amniotic sound is removed, which will be examined to detect genetic changes like this one. In terms of major immersion in the photocopy, the mother can get hurt in her & # 39; first 22 weeks.

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