Klinefelter Syndrome

Klinefelters syndrome

Klinefelts syndrome is a hereditary disease that develops in men and manifests itself in the form of mental retardation, endocrine and cardiovascular disorders, as well as decreased sperm activity. It occurs with a frequency of about 1% of boys born into the world, starting in the mid-thirties of the 20th century. The disease is named after the American endocrinologist David Klinefelter, who first described this syndrome in 1893.

The manifestations of Klinefeldt syndrome may differ for each person. As a rule, carriers of the syndrome may have developmental delay or mental retardation; problems in social adaptation are common symptoms. High levels of body fat mass, sweating, tall stature, obesity, and obesity in adolescence are also observed. However, some symptoms may be more severe in different people. In addition, with age, the condition of patients may worsen.

The disease is a rare genetic disorder caused by a change in the number of chromosomes in an individual. Chromosomes are the same in all people, but the number of chromosomes can vary. When a man has an extra X chromosome or a deficiency of the Y chromosome, it can lead to Klinefeldter's disease. These disturbances occur during the formation of sperm, which makes it less active and leads to a decrease in the ability to reproduce, that is, to infertility.

The diagnosis of Klinefelter syndrome is usually made based on genetic testing. First of all, gene testing helps determine the presence of additional chromosomes. The test is performed on blood or urine. To check for the presence of an extra Y chromosome, microscopy of thin sections of markers is performed. Other diagnostic methods often include consultation with an ophthalmologist, endocrinologist and cardiologist.

Klinefelter syndrome

**Klinefelter syndrome** is a clinical complex caused by the presence in a sick man of three or more XXY sex chromosomes in the presence of one X chromosome. Manifestations of the syndrome vary - from severe impotence to “syndrome of the opposite sexes”. Accompanied by gynecomastia, short stature, relative weakness, and sometimes infertility. Diagnosis of the syndrome includes a study of the level of male sex hormones, a coagulogram, gynecological examination and karyotyping. Treatment is only surgical - replacement of the patient’s sex chromosomes or one