CININFELTER SYNDROME
Congenital disease, manifested in men in the classical version in eunuchoid body proportions, breast enlargement, underdevelopment of testicles and the absence of sperm in sperm. For the first time this disease was described in 1942 by G. Klinefelter, E. Reifenstein and F. Albright. Klinefelter syndrome occurs in 0.1-0.2% of apparently healthy men, but is the most common form of male hypogonadism. The causes and mechanisms of the development of this syndrome are not exactly established. The disease is caused by an anomaly of sex chromosomes. It is assumed that the non-dissociation of the parent X chromosomes is more common. The most common set of chromosomes 47, XXY( 90% of cases), less often a set of chromosomes 48, XXXY, 48, XXYY.When typing chromosomes 48, XXXY and 49, XXXXY, as a rule, there is a debility.
The disease begins to appear after the end of puberty, less often during this period. The most common variant of the syndrome is characterized by eunuchoid body proportions( people above average height), an increase in the mammary glands and the absence of spermatozoa. It is rare to reduce the number of spermatozoa. One of the extreme variants of the syndrome is a seemingly normal man, a regular physique, with a good development of secondary sexual characteristics, normal penis size, leading a sexual life and believing that he has a normal potency. Libido and potency by 25-30 years, usually fade.
External examination reveals small testicles of dense consistency. The volume of testicles less than 5 ml allows you to suspect Klinefelter's syndrome and undergo a targeted examination. The increase in mammary glands is noted in 25-50% of patients. Approximately 1-3% of patients develop breast cancer. Hair can be of varying degrees of severity - from scant( more often) to normal( rarely).The pubic hair is satisfactory, but according to the female type. Eggs are often underdeveloped, but sometimes approach normal size. The penis is usually of normal size, rarely reduced in size. The scrotum is formed correctly, the skin is somewhat flabby. In most people with Klinefelter's syndrome, the musculature is poorly developed. Characteristic features are mental lethargy and emotional instability. Most often, such children have poor academic performance in school and for a long time retain the features of infantilism. In physical development, they usually do not differ from their peers. Cryptorchidism( undescended testicles in the scrotum) is rare. The main complaint in this syndrome, as a rule, is a complaint about infertility. Particularly sick sexual desire is reduced, spontaneous erections, as a rule, are preserved.
Extra X-chromosome causes various mental disorders. Patients are very suggestible, sluggish, apathetic, lack of initiative, they often have mental retardation( usually debility).Often there are paranoid, hallucinatory-paranoid, depressive psychoses and obsessions, sometimes antisocial behavior and alcoholism are observed.
When karyotyping an excess X-chromosome, early detection of the syndrome is possible if it is suspected. Recognition of the syndrome before the onset of puberty is very difficult, as all signs of the disease begin to manifest themselves clearly after puberty teenager. If the syndrome is suspected before the onset of puberty, the syndrome can be identified by examining a set of chromosomes.
The blood determines a high level of gonadotropic hormones. The level of testosterone( male sex hormone) is closer to the lower limit of normal or normal. When examining the ejaculate, there is a lack of spermatozoa, rarely - a decrease in their number in the ejaculate. The prostate gland is most often within the normal range, less often - somewhat underdeveloped.
In some men with a mosaic set of chromosomes 46, XY / 47, XXY, in the study of the testicular tissue site, along with typical changes, sections of tubules with normal spermatogenesis( formation of spermatozoa) are revealed. The main method of detecting the disease is to study a set of sex chromosomes.
Treatment of infertility, which is most often complained of persons with Klinefelter's syndrome, is futile. In some cases, treatment with androgens( male sex hormones) begins immediately after the diagnosis. Androgen therapy helps normalize the formation of gonadotropic hormones by the pituitary gland and prevents the development of osteoporosis. According to another approach, individuals with Klinefelter syndrome do not need substitution therapy with androgens, since the male function is not impaired, despite the relatively low level of testosterone in the blood. Only with expressed signs of inadequate development of the body in the male type is prescribed male sex hormones( sustanon, omnadren, andriol).Treatment with androgens can also help to increase the overall tone and sexual desire, increase the size of the penis.