Klinefelter syndrome or XXY syndrome is one of the most common genetic disorders in men: According to a study conducted in Denmark by the Aarhus Psychiatric Hospital in the beginning of the 90's, it can be seen in 1 in 576.
People have 23 pairs of chromosomes and the second determines our gender. Women have two identical chromosomes (XX) and two different chromosomes (XY) in men.
Men with this syndrome have at least one more X, which in most cases leads to karyotypes such as karyotype 47, XXY, or in rare cases 48, XXXY or 49, XXXXY. Therefore, Klinefelter syndrome is also called XXY syndrome.
One of the most important results is the lack of testosterone production.Male sex hormone. Men's body doesn't produce it naturally, so each one is injected every month since it detects the syndrome.
In many men with Klinefelter, though not genital organs will develop and stay smaller, which will prevent the production of testosterone.
As a result, the breasts can grow more than normal, and puberty may be delayed or may not even occur.
Given the low production of hormones, fertility is affected. If the syndrome is detected early, sterility can also be stopped.
In addition, according to the National Library of the United States of America, type 2 diabetes, blood clots, involuntary shivering, breast cancer, osteoporosis, rheumatoid arthritis and the risk of developing lupus is higher.
Or The problem is that many people are not diagnosed, “he says. This is a little-known fact that even some of the sufferers cannot understand it.Da Diego Yeste, the head of the pediatric endocrinology unit at the Hospital of Vall d'Hebron in Barcelona, "he says.
Right now, In Spain, Klinefelter syndrome is increasingly being diagnosed by amniocentesis, a test performed during pregnancy.
A sample of amniotic fluid is removed; this is analyzed to detect genetic changes such as this. Faced with a serious anomaly in the fetus, the mother can request an abortion for the first 22 weeks.