Klinefelter's syndrome, or XXY syndrome, is one of the most common genetic disorders among men: it occurs at 1 at 576, according to a study conducted in Denmark in the early 90s by the Aarhus Mental Hospital.
Humans have 23 pairs of chromosomes and the last one determines our sex. In the case of women, this 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 many cases leads to karyotype 47, XXY or, in rare cases, karyotypes such as 48, XXXY or 49, xxxxx. Therefore, Klinefelter syndrome is also called XXY syndrome.
One of the main consequences is a deficiency in testosterone production, male sex hormones. The human body does not produce it naturally, so many can inject it every month because they detect the syndrome.
In many men with Klinefelter, although not all, the genitals do not fully develop and remain smaller, which inhibits testosterone production.
As a result, the breasts can grow more than normal and puberty can be delayed or not even occur.
Given the low production of hormones, fertility is affected. If the syndrome is detected early, infertility can also be stopped.
In addition, they have a higher risk of type 2 diabetes, blood clots, accidental tremors, breast cancer, osteoporosis, rheumatoid arthritis and lupus, according to the National Library of Medicine in the United States.
"The problem is that many people are not diagnosed," he said. This is a condition that is so little known that some of those who suffer, cannot understand at all"Says Diego Yeste, head of the pediatric endocrinology unit Vall d 'Hebron Hospital, in Barcelona.
This time, Klinefelter's syndrome in Spain is diagnosed more and more thanks to amniocentesis, tests carried out during pregnancy.
Amniotic fluid samples are extracted, which are analyzed to detect genetic changes like this. Facing a serious anomaly in the fetus, the mother can request an abortion for the first 22 weeks.