Klinefelter's Syndrome

There are diseases that are difficult to recognize and cure in time. One of them is Klinefelter's syndrome. This is a genetic disease caused by an incorrect set of sex chromosomes. Normally, a person has 46 chromosomes, two of which determine the sex of XY, and the patients have an extra X chromosome and their genome looks like this: 47 XXY, although there may be other variants, for example, 48 chromosomes where there is XXXY or XXYY. There is also mosaicism, which means that some cells have a normal set of chromosomes 46 XY and the other part is changed to 47 XXY.

The X chromosome is feminine and is inherited from the mother, and Y is the male (from the father). Excess mother of the chromosome leads to changes in the body of the boy, associated mainly with reproductive function. Statistics say that genetic disorders are more common in children who were born by mothers after 40 years, whereas the age of the father does not affect the incidence.

Klinefelter's syndrome, symptomatology

We are used to believe that genetic diseases manifest themselves from birth, for example, Down's syndrome. But it is difficult to detect and suspect Klinefelter's syndrome before adolescence . Approximately at 14-15 years, the first signs begin to appear - growth is above the average, and the extremities are disproportionately long, the hair is carried along the female type in the pubic area, while in other places there is almost no hair. The breast gradually increases, the size of the testicles remains small.

Sexually mature man can not lead a normal sex life, he suffers from erectile dysfunction with a weakly expressed orgasm. Against this background, mental disorders develop, a person becomes antisocial, but refuses to go to the doctor, saying that everything is in order.

The degree of impairment of intelligence depends on the number of extra X chromosomes. Usually there is a slight delay in mental development, but in adults it can be completely overlooked. True, such patients are prone to epilepsy.

Usually all these signs are combined with other systemic diseases, for example, with lung diseases, diabetes, osteoporosis or thyroid problems.

Klinefelter's syndrome, diagnosis

After the syndrome is suspected by external signs, a man or adolescent is referred to an endocrinologist. Analysis of hormones shows that the content of follicle-stimulating hormone is increased in the blood of patients, and the content of testosterone and androsterone will always be reduced.

If you immediately carry out karyotyping - determining the number of chromosomes - and make a genetic passport, then no other tests can not be taken. Such a study gives a 100% result.

Often such signs as obesity, gynecomastia (enlargement of the mammary glands) and osteoporosis in adolescents are left without doctors' attention. However, even on these grounds, one can suspect the disease, since all of them are associated with a lack of testosterone in the body. Osteoporosis is generally considered a woman's disease, as well as a disease of the elderly.

Klinefelter's syndrome, treatment

The only way to treat this disease is hormone replacement therapy with testosterone preparations. It is advisable to begin treatment as early as possible, however, the difficulty of diagnosis is that it is practically impossible to determine the disease before puberty.

Hormones return to the man his sexual characteristics, enhance sexual desire, but do not treat infertility. This is the only thing that remains unchanged: men with Klinefelter's syndrome never have children, they do not develop sperm.

Treatment is carried out for life and gives a good positive result, returning to the man self-confidence.

There is an opinion that early diagnosis (at the age of 7 years) allows you to start treatment on time and allows you to develop and function testicles fully, which means that a man can have children.