Klinefelter syndrome

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Klinefelter syndrome

In Klinefelter syndrome, a genetic disorder, men have an extra X chromosome. The incidence is higher in men with azoospermia. In this congenital condition, while the cells of the mother and father unite, an excess of genetic material is added to the father's cells depending on the father. In this syndrome, the cause of which is not exactly known, there are 3 sex chromosomes that should be two. This genetic structure, which should be XY, is observed in patients with Klinefelter syndrome as XXY. There are two types of Klinefelter's disease. The first is pure Klinefelter's syndrome, which is seen in the genetic material of the cell, and the other is the mosaic karyotype, which is seen in 10% of a part of the cell.

What are the symptoms of Klinefelter's syndrome?

Men with this syndrome often have large breasts, male infertility and a condition called hypogonadism. Although the symptoms and structure of the syndrome are not the same for everyone, some men have narrow shoulders, a short body, long legs and a long thin structure. Some men with Klinefelter's syndrome may have difficulty reaching puberty during their teenage years. In this way, men who present to the hospital receive hormone therapy. Testicular size is small and gonadotropin hormone levels are high. Azoospermia is a common condition in these men. Men with Klinefelter syndrome, a type of mosaic karyotype, can sometimes also have sperm.

Klinefelter syndrome test

The Klinefelter syndrome test is a genetic test. It is diagnosed by separating the genetic chromosome structures in the patient's blood sample. It is usually revealed as a result of tests carried out when couples approach a doctor when they are unable to have children.

How is Klinefelter's syndrome treated?

Unfortunately, there is no cure for Klinefelter's syndrome. As it is a genetic disease, it is not possible to change the genetic structure of the body's cells. The methods used aim to eliminate or reduce the effects of the existing syndrome. Even if men with Klinefelter's syndrome do not naturally have a baby, they can undergo IVF treatment. To do this, the patient with Klinefelter's syndrome undergoes micro-TESE surgery, sperm collection and microinjection of these sperm, and in vitro fertilisation treatment. This syndrome can also be observed in sons of patients with Kleinfelter syndrome. For this reason, couples should receive genetic counselling during in vitro fertilisation treatment and genetic analysis should be performed before embryo transfer.
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