Monday , May 29 2023

Genetic disorder that causes genitalia and fertility


Manu was often given blood tests because of type 2 diabetes, but at the age of 33, a physician paid attention.

"I was discovered menopausal"It's a 50-year-old Spanish on the phone, and an analysis indicates that her fertility level was low for her age.

He went to the clinic before giving the final diagnostic tests by a medical doctor: he had an additional sex chromosome, specifically an additional X, a genetic condition Klinefelter Syndrome In honor of the American writer Harry Klinefelter in the 40s.

The condition that has become the greatest secrecy. "At this age, someone says it and they make you laugh first thing, it has happened to me more than once," he admitted.

He does not say to his parents, "because they are very old," her sister thinks she guesses it and does not speak to a few family members, because she has begun to see "compassion".

However, Klinefelter syndrome is the most common genetic difference between males: it occurs From point 576, According to the Danish study at the beginning of the 90s, the Aarhus Psychiatric Hospital.

Man has 23 pairs of chromosomes and the latter determines sex. In the case of women, both chromosomes (XX) are equal and, in both cases, form two different chromosomes (XY).

But, like Manu, men with this syndrome have at least one X, in most cases, trivia 47 or XXY or, in rare cases, karyotypes 48, XXXY or 49 ketotypes, XXXXY.

That's why Klinefelter Syndrome is called XXY Syndrome.

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

Manu body, for example, no creates a natural They have been injected every month since they have detected the syndrome. She said that she had never been a beard until that time, and she had grown some hair under her shoulders.

"Certainly, every day and every day, two or three patients cross in this street and do not know it," says Diego Yeste, head of the pediatric endocrinology hospital in Vall d 'Hebron hospital in Barcelona.

"The problem is that many people do not diagnose it," he says. Although it may be very little, I do not even understand Manu. For example, he says: "Physiologically, I am a man, but biologically, I am a woman."

A completely wrong idea, as Yest says: "From a chromosomic point of view and from a sexual appearance, they are men. You do not experience testosterone when you feel like a woman. This does not create difficulties with sexual identification. This population does not have to have sexual identities more than the rest. "

Physical effects

Many men from Klinefelter, though not all genitals are not fully developed and they are smaller, making it difficult to produce testosterone.

As a result, breasts grow more than normal and adolescence can be delayed or it does not occur.

Considering the low hormone production, fertility is damaged. In addition, a type 2 diabetes, blood coop, unwanted tremor, breast cancer, osteoporosis, rheumatoid arthritis and lupus is more likely to develop depending on the United States National Library of Medicine.

Physical effects can be treated. Yeste can administer testosterone every two to three weeks or six months intramuscularly, depending on dosage, or even on subcutaneous daily.

If the syndrome is detected early, infertility can also stop.

"The problem of these guys, beginning in adolescence during adolescence, until they are ruined, is more likely to be inferno because they cause the same male hormone and other mechanisms germ cells disappearThose who develop sperm. It is a very well-known process, but it can facilitate excess chromosomes, "says the doctor.

So now, it is advisable drink and freeze during sperm during pubertyIn this age group, 20% and 30% of young people produce spermatozoa by quality, explains Yeste.

The rest may have an experiment in the experimental field: "It is recommended to conduct a testicular biopsy locally to obtain sperm or to look good tissue then distinguish it from the sperm in the future, as it is a close supposition. "

Infertility stigma

But Manu, the main disadvantage of this genetic disorder, is its effects on love: "You have a Klinefelter Syndrome as soon as you tell your partner."

"And it's very difficult after passing the pair".

When diagnosed, he had a four-year relationship. His girlfriend helped him get tests and the doctor explained what the syndrome was like.

"At first, he reacted well, but then he left and went to Klinefelter, he told me," Manu recalls.

During the last 17 years he had a partner twice more. First of all, he did not tell them that he believed that he had syndrome and that he recognized it to hide the opportunity forever.

"But then you ask yourself:" If he loves me, he will accept it. "" So you said, and if you talk badly, it sends you to hell ".

Although he had a one-year relationship, in one case and in the other two he dismissed it. "Most women want a child and I can not give them."

The Department of Psychology of the Unit of Psychology of Minority Illnesses at Hebron Hospital, Isabel Quiles, explains Infertility creates stigmatization "very important" in this group.

"One thing is kept very calm and in very good condition … They seem to suffer a lot of seriousness before telling Klinefelter syndrome, so they can not have any children."

In most cases, this disorder is a secret. "I think:" We'll get to a room, what will happen, when they see a small genitals … "They exclude the decision to start a relationship and look for a partner."

Many wait for adult dates to start women's dates. "Sometimes they look older couples with more sexual experiences and know that this size is not so important, I do not tell anyone that their genitals laughed, I think they expect a stable relationship to start sex."

Discard Family

But, as in the case of Manu, discrimination comes from the closest environment. "In general, the family is the same, especially father, who stigmatizes his son." If the family is a bit primitive and sexist, The child frowns in front of his fatherIt is a complex to have a child with small genitals, it is necessary for the breasts to function, "explains Quiles.

"They do not know anyone because they link it to homosexuality like that, because in reality it is not that."

Warning Signals:

The diagnosis of the child in the first six months of life is important, if you get the testosterone you need at this stage, you can avoid the effects such as micropenis, says endocrinologist Diego Yeste.

The psychologist Isabel Quiles adds that children with this disorder can often have an energy deficit and they are small explorers to have an impact on learning. In addition, they usually have difficulties in socialization and, in adolescents, they can undergo depression and exclusion. That's why you need to apply premature stimulation.

Yeste recommends pediatricians to pay attention to three pregnant babies during childhood:

  • Growth in the first years of population.
  • Small genital anomaly: a small penis or brain scrotum.
  • Language and learning disorders.

Manu Klinefelter's Syndrome (Ascatsk) is trying to get together with the collaboration of the Catalan Association, some years ago, to share experiences with other men.

If he knew that people knew more, the reduction would be reduced. "Most are afraid when they hear the first word: Syndrome," he said.

Diego Yeste agrees: "When they say that they are a syndrome and they say they have more chromosomes, they think they're the ones they think," I'm a monster, "and they're not."

The doctor believes that another condition is "enjoying" the following conditions: "There are other pathologies that arise More serious imbalances and societies are better off".

In Spain, nowadays, Klinefelter Syndrome is diagnosed with amniocentesis, which is a pregnancy test.

A sample of the amniotic fluid is extracted, which analyzes genetic modifications like this. In the face of a serious fetal abnormality, the mother may request abortion during the first 22 weeks.

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