Klinefelter's syndrome

Klinefelter's syndrome describes a chromosome disorder that exclusively affects male newborns. One of 900 newborn boys is affected by this genetic defect. Klinefelter's syndrome is based on the eponymous U.S. physicians named the 1942 first described this genetic defect.

It is estimated that up to 90 percent of these patients the diagnosis is not known. Klinefelter's syndrome there is a XXY chromosome arrangement rather than an XY configuration. To this end there was a significant testosterone deficiency. This means that the delayed and incomplete puberty is associated, it often develops a feminine body and pubic hair is shaped more feminine. Later shows an infertility (sterility), because this is often not initiated until a later diagnosis. As with many forms of chromosomal abnormalities also the risk for late-talking mothers is increased, that is over 35 years.

What are the symptoms of Klinefelter's syndrome?

Symptoms will appear in Klinefelter's syndrome usually only during or after puberty. The body size is at a young age than average. This is also due to testosterone which is responsible for the growth of bones, or just not sufficiently present. Also, the ratio of the lower body to upper body shows a deviation. The body length of foot to the pubic bone is often significantly larger than that of the upper body. The wingspan of both arms is greater than the total body length. Even a so-called gynecomastia, which means a growth of female breasts, occurs among those affected. This can be treated surgically, because the risk of breast cancer (breast cancer) in men is increasing.

Puberty occurs delayed and incomplete passes. The effect is more feminine physique and the pubic hair female character. Testicles and penis of the person concerned is below average small. Diabetes mellitus, heart disease or abnormalities of the testicles, thereby affecting the urinary tract often show up at the boy. The libido is decreased in Klinefelter's syndrome, or missing altogether. Most later there is a sterility which often gives rise only to study the persons concerned.

Mild mental changes (anxiety or emotional lability) or mild mental deficits in Klinefelter's syndrome are more common, most mental development is normal.

How is Klinefelter syndrome diagnosed?

Because of the characteristic features already visible, a suspected diagnosis. Ideally, using cytogenetic and molecular genetic investigations, a diagnosis of Klinefelter's syndrome safely.

Which therapy is used in Klinefelter's syndrome?

In general we can say that the time of diagnosis has a decisive influence on the therapy. The earlier the diagnosis, the better are the treatment options.

With early diagnosis because of threat of infertility, testosterone administration is displayed, which is intended to affect the sexual development positively. This can indeed be made no fertility, but the testosterone helps prophylactic against later osteoporosis in adulthood frequently occurring of those affected. It is not known that a Klinefelter's syndrome, the life expectancy negatively affected.

Can it be prevented Klinefelter's syndrome?

The prevention of a chromosomal abnormality is not medically possible, however, a prenatal diagnosis can be performed in the womb. However, this is usually only performed if the pregnant woman has given birth to a child with Klinefelter's syndrome. In the course of therapy with testosterone administration can be prevented osteoporosis in adulthood.