Klinefelter syndrome

August 12, 2017 17:51 | Genetic Diseases

congenital disease, which manifests itself in men in the classic version in eunuchoid body proportions, breast enlargement, testicular hypoplasia and absence of sperm in the semen.First described the disease in 1942. Mr. Klinefelter, Reyfenshteynom E. and F. Albright.Klinefelter syndrome occurs in 0.1-0.2% in appearance absolutely healthy men, but is the most common form of male hypogonadism.The causes and mechanisms of development of this syndrome is not well established.The disease is caused by an abnormality of the sex chromosomes.It is assumed that often occurs nondisjunction maternal X-chromosome.The most common set of chromosomes 47, XXY (90%), rarely observed set of chromosomes 48, XXXY, 48, XXYY.At a set of chromosomes 48, 49 and XXXY, XXXXY, usually marked debility.

disease begins to manifest after puberty, at least during this period.The most common variant of the syndrome characterized eunuchoid body proportions (people taller than average), breast enlargement and the absence of sperm.Rarely

is a decrease in sperm count.One of the extreme variants of the syndrome - seemingly normal man, properly built, with good development of secondary sexual characteristics, normal size of the penis, leading a sexual life and believes that it has a normal potency.Libido and potency in 25-30 years, usually fade away.

When the external examination revealed small testes dense consistency.Testicular volume less than 5 ml allows to suspect Klinefelter syndrome and pass meaningful examination.Breast enlargement observed in 25-50% of patients.Approximately 1-3% of patients developed breast cancer.Body hair can be of varying degrees of severity - from lean (usually) to normal (rare).Pubic hair distribution is satisfactory, but the female type.Testicles are often underdeveloped, but sometimes close to normal size.The penis is usually normal values ​​seldom reduced in size.The scrotum is formed correctly, the skin several dryablovata.The majority of individuals with Klinefelter's syndrome is poorly developed muscles.Characteristic features are mental lethargy and emotional instability.Most of these children have poor school performance, and for a long time retain the features of infantilism.In physical development, they usually do not differ from peers.Cryptorchidism (undescended testicle into the scrotum) is rare.The main complaint with this syndrome usually is a complaint of infertility.Participating patients with decreased sexual desire, spontaneous erections are usually kept.

The extra X chromosome leads to various mental disorders.Patients are very suggestible, sluggish, apathetic, lack of initiative, they often marked mental retardation (usually debility).Often there are paranoid, hallucinatory-paranoid, depressive psychosis and obsessive-compulsive disorder, are sometimes observed antisocial behavior and alcoholism.

In karyotyping extra X chromosome is possible the early detection of the syndrome in suspected him.Recognition of the syndrome before puberty is very difficult, because all the symptoms of the disease begin to appear clearly after puberty teenager.If you suspect a Klinefelter syndrome before puberty syndrome can be identified on the basis of studies sets of chromosomes.

high level of gonadotropin-releasing hormone in the blood is determined.The level of testosterone (male sex hormone) is closer to the lower limit of normal or normal.When semen examination revealed no sperm, rarely - a reduction in their number in the ejaculate.The prostate gland is most often in the normal range, rarely - a few underdeveloped.

Some men with a mosaic chromosome 46, XY / 47, XXY in the study of testicular tissue site, along with the typical modifications identified tubular sections with normal spermatogenesis (formation of sperm).The basic method of detection of the disease is to study a set of sex chromosomes.

Treatment of infertility, for which often complain about people with Klinefelter's syndrome, is futile.In some cases, treatment with androgens (male sex hormones) begin immediately after diagnosis.Androgen promotes the normalization of education gonadotropin hormone by the pituitary gland and prevents the development of osteoporosis.According to another approach, persons with Klinefelter's syndrome in androgen replacement is not needed, as a function of men they are not broken, despite the relatively low level of testosterone in the blood.Only when expressed signs of underdevelopment of the body of male type is assigned male sex hormones (Sustanon, Omnadren, andriol).androgen treatment may also improve the overall tone and sex drive, increase penis size.