Klinefelter's Syndrome

Klinefelter's syndrome is a fairly common hereditary genetic disease caused by changes in the number of chromosomes. This disease is found exclusively in males and most clearly begins to manifest itself during puberty in the formation of secondary sexual characteristics. Klinefelter's syndrome occurs at a frequency of 1: 500/600 men, and it was noted that the more years of the mother at the time of the birth of a child, the higher the risk of her baby's birth with this syndrome

Klinefelter's syndrome symptoms and signs

Before the onset of pubertythe syndrome shows almost nothing. Boys as a whole are developing and growing like all ordinary children, but sometimes there may be a delay in mental( debility) and mental development. The features inherent in Klinefelter's syndrome begin to appear after the puberty period: underdevelopment of the testicles( very dense and small), the penis is very small, pubic hair on the female type is observed, the mammary glands are significantly enlarged;In semen there is either a complete absence, or a significant decrease in the number of spermatozoa, which subsequently leads to infertility. For Klinefelter's syndrome, the appearance of the patient is also characteristic: the eunuchoid type of physique( broad pelvis, narrow shoulders), sufficiently high growth, long legs. In some cases, there are violations of mental activity( often with age).People with Klinefelter's syndrome are more likely than others to suffer from breast cancer, varicose veins and pulmonary diseases. Also, patients with this syndrome have different behavioral abnormalities: indifference to the whole environment alternates with aggressiveness

Klinefelter's syndrome diagnosis

Diagnosis of Klinefelter's syndrome is established based on the results of chromosome analysis and the typical appearance of patients. In those cases when a man does not have pronounced manifestations of the disease, and there is still a suspicion of his presence, the sperm is diagnosed for detecting the morphological composition of spermatozoa

. Klinefelter's syndrome is treated with

. In the treatment of Klinefelter's syndrome, it is very important to diagnose it before reaching puberty, as well as timely prevention of violations of sexual dysfunction and puberty development. Depending on the severity of the course of the disease, amputation of the mammary glands( mastectomy) may be indicated. If there are clinical signs of endocrine insufficiency of the testicles, the use of male sex hormones is indicated.

To date, the most effective method that minimizes virtually all manifestations of Klinefelter's syndrome is to conduct several courses of hormone therapy in the form of injections of methyltestosterone( a synthetic analogue of testosterone).The most noticeable results are if Klinefelter's syndrome was diagnosed before the age of ten.

With the rarely seen mosaic form of this syndrome, the patient retains the ability to have children, but he must first seek genetic counseling, since this chromosomal abnormality can be inherited by his children.