Klinefelter syndrome or XXY syndrome is one of the most common genetic diseases among men: it occurs at 1 in 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).
Men with this syndrome have at least one X more, which in most cases leads to karyotype 47, XXY, or in rare cases 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. The body of men does not naturally generate it because many people are injected every month since they discovered the syndrome.
In many men with Klinefelter, though not all, genitals do not develop completely and 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 low production of hormones, fertility is affected. If the syndrome is detected early, sterility can be stopped.
They also 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 problem is that many people are not diagnosed," he says. It is so little known that even some of those who suffer do not even understand it"Said Diego Estet, head of the endoscopic unit for children at the Vall d Hebron hospital in Barcelona.
Now The Kleinfelt syndrome in Spain is being diagnosed more and more thanks to amniocentesis, a test that occurs 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.