Kneinfelter syndrome, or XXY syndrome, is one of the most common genetic disorders in males: it occurs in 1 in 576, according to a study done in Denmark in the early 90s by the Psychiatric Hospital in Aarhus.
People have 23 pairs of chromosomes, and the second one determines our gender. In the case of women, it is composed of two identical chromosomes (XX) and, in the case of men, two different chromosomes (XY).
Men with this syndrome have at least one other X, which in most cases leads to karyotype 47, XXY or, in rare cases, karyotypes like 48, XXXY or 49, XXXXY. Hence, the Klinefelter syndrome is also referred to as the XXY syndrome.
One of the main consequences is the lack of testosterone production, male sex hormone. The body of men does not generate it naturally, so many are injected every month after they detect the syndrome.
In many men with Klinefelter, although not at all, genitals are not fully developed and remain smaller, impeding the production of testosterone.
As a result, breasts can grow more than normal and puberty may be delayed or not even occur.
Given the low production of hormones, it affects fertility. If the syndrome is detected early, sterility can be discontinued.
In addition, they have a greater risk of developing type 2 diabetes, blood clots, unwanted vibration, breast cancer, osteoporosis, rheumatoid arthritis and lupus, according to the National Library of Medicine of the United States.
"The problem is that many people are not diagnosed," he says. It is a state so little known that even some of those who suffer it do not understand at all"Diego Este, head of the pediatric endocrinology department at the Val de Hebron Hospital in Barcelona, said.
In the moment, Klinefelter syndrome in Spain is being diagnosed more and more thanks to amniocentesis, a test performed during pregnancy.
A sample of amniotic fluid is taken, which is analyzed to detect genetic changes like this. Faced with a severe anomaly in the fetus, the mother may seek abortion during the first 22 weeks.