The concept of Klinefelter's syndrome
Klinefelter syndrome or dysgenesis seedtubules (seminiferous tubules of the violation) was first described in 1942 as a combination of Klinefelter evnuhoidizma, gynecomastia (breast enlargement), small testes, absence of sperm allocation and enhanced the secretion of follicle stimulating hormone.
Klinefelter syndrome is caused by congenitalsex chromosome abnormality in which a patient has one extra X chromosome, less extra X chromosome is few. Normally, a normal set of sex chromosomes in males is described as XY.
In Klinefelter's syndrome in uteroperiod of testicular development occurs normally and newborn child is no different from other children almost to adolescence. During puberty testicular size does not increase, as is the norm, and reduced. Testicles become denser. They are replaced by normal tissue of the testes fibrous strands, the number of cells producing male sex hormones decreases dramatically.
The main manifestations of the disease
There hypogonadism (lack of functiongonads). Bone growth in length due to the lack of androgens does not stop, and develop "eunuchoid" proportions of the body with long limbs. Hair growth is meager, pubic hair growth in female type. The penis is usually of normal size or may be somewhat reduced, testicles small, flabby.
Sexual function, reduced erection, the number ofejaculate (sperm released) small orgasm slabovyrazhen. Patients infertility. Some patients with Klinefelter's syndrome are found mental disorders. Patients often avoid medical treatment and claim that they are completely healthy. They may antisocial behavior.
Klinefelter's syndrome may be associated with other systemic diseases, common diabetes, thyroid disease, chronic non-specific lung disease.
Diagnosis and treatment of diseases
The diagnosis of Klinefelter's syndrome seton the basis of specific complaints, and the appearance of the patients, the absence of testicular palpation and ultrasound. In the blood of patients reduced testosterone levels. It confirms the diagnosis of genetic research.
Treatment aimed at restoring diseasethe level of male hormones in the body. To this end, carry out substitution therapy with androgens - male sex hormones (Sustanon, testenat). Initially, large doses are assigned, when the positive effect, lower dose. Infertility in these patients is incurable.