Genetic Diseases

Klinefelter Syndrome

A few words about Klinefelter Syndrome

Klinefelter’s syndrome, is undoubtedly one of the most severe genetic diseases. In this syndrome, the patient has a chromosome abnormality. To be more specific, the patient cells have 47 chromosomes (instead of 46), which means chromosome aneuploidy! This syndrome happens only to males. There is an extra sex chromosome (X or Y). This can cause a variety of behavioural and physical troubles. Doctor Harry Klinefelter first found and described the patience (in 1942), so it took his name. The possibility of Klinefelter Syndrome is 1 every 500~1000 males.

Symptoms and signs of Klinefelter Syndrome

There is a long list with symptoms/signs of Klinfelter syndrome. Of course there are same scarce occasions that a Klinefelter patient can express no symptoms. The most important symptom is the male infertility. Some other symptoms are the presence of small testes, inability to produce sperms, a very characteristic rounded body type. Besides, the patients can have difficulties in reading, writing, or even language problems!

Causes of Klinefelter Syndrome

Of course many scientific studies try to solve the mystery of “what causes the Klinfelter Syndrome”. It has been shown that the possibility of a newborn with Klinfelter is increased according to the age of the parents. The abnormality happens during the meiosis and more specific during the separation of the chromosome pairs. Due to these abnormalities, one of the germ cells (sperm or egg) can have two sex chromosomes which means that the infant can have three X or two X and a Y chromosome.

Klinefelter Syndrome Treatment

Here is a typical patient with Klinefelter SyndromeOne of the most successful ways of treating this severe disorder is by using testosterone injections. The Klinefelter Syndrome is highly connected to hormone abnormalities, so it is possible that the injection of the most important male sex hormone, could improve the situation of a Klinefelter Syndrome patient. This treatment is very effective when it takes place during the first years of the patient’s life. When the disorder is diagnosed during the adulthood, the testosterone treatment is not so successful. However, we can’t doubt that the the testosterone injection can increase muscle strength, hair of body and face. Besides it has been noticed that this treatment can also cause psychological changes. The males’ self esteem is increased, they are more active. Finally the patients can concentrate better and the need for sleep is highly decreased!

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