This ailments are characterized by the presence of a man in the body of an extra female sexual x-chromosome. At the same time, the concentration of testosterone decreases in the body, the activities of the genital glands will deteriorate, the structure of the genital organs is also changed, in particular, the testicles are uncharacterically small.
Klinfelter syndrome is congenital, but it is not inherited. After all, most of these patients are just just fruitless. In this case, the genital chromosoma anomaly is characterized by the presence in DNA of one or more excess women's X-chromosomes in the male karyotype xy. For example, at the same time there is a set of chromosomes in the body, which looks XXY, XXXY or XXXXY. Although in a healthy body this set should look like XY.
Despite the fact that the disease is congenital, it cannot be revealed without genetic tests before the beginning of the period of puberty. Therefore, many know about this problem about the age of 12-14 years. Until this age, the boy's development does not give parents for concern. One of the first signs of Klinfelter's syndrome is a decrease in the sizes of the testicles that have developed normally. At the same time in the body of the teenager decreases the number of cells that produce men's sex hormones in the necessary quantities.
It is noteworthy that this disease occurs not so rarely. On average according to statistics, the frequency of the presence of pathology is one case by 500 male people. It should also be noted that this syndrome is the third in the list of common endocrine diseases in men. More often found only diabetes and hyperfunction of the thyroid gland.
Such a genetic violation is developing when at the initial stages of the formation of spermatozoa and egg cells, the chromosome discrepancy occurs. In general, according to research, this syndrome is to date the most common cause of an innate violation of the childbearing function in the male. Many men do not even suspect the presence of the disease, until they seem to see the doctor and the necessary research will not pass. Most often they come to hospital with complaints infertility and violation of erection.
Symptoms
Hormonal therapy is usually assigned to patients with data from the introduction of testosterone. With the help of hormone reception, it can be achieved that sexual signs will begin to appear in a timely manner. Hormone reception is desirable to start from age 13-14 years, which will largely help the normal development of intelligence. Therefore, the earlier this pathology was revealed, the more effective it would be. It is desirable that adequate therapy be started before the end of puberty. With the help of such substitution therapy it is possible to suppress the manifestation of external signs of the disease, but it is not necessary to forget that this syndrome leads to infertility that is incurable.
Adequate treatment can prevent muscle weakness and development Osteoporosis. If such pathologies have already been developed, then with the help of treatment you can return the bones and muscles of the patient to normal. If the increase in the mammary glands is too pronounced, then the question is about their surgical removal. In the treatment, it is worth considering that this disease is also postponing a noticeable trace on the psychological human health. Patients with clanfelter syndrome can be very sensitive and changeable to other people. Therefore, so that people with syndrome have less thought about their problem, you need to sharpen attention to their attention as much as possible. With this pathology, there are often concomitant diseases, such as second type diabetes and obesity. For their prevention, the patient must comply with special diets, as well as monitor their weight.
Forecast
The forecast of the life of patients with clanfelther syndrome is usually favorable. Such people can work normally. True, again, it largely depends on the state of their psyche. As for the forecast concerning the restoration of the ability to fertilization, it is extremely unfavorable. However, today there are information that with the help of modern medicine, healthy children are possible in such patients through the use of such technology as Extracorporal fertilization. With this procedure, the patient takes suitable cells and tissues of the testicles, then germ cells are distinguished from them, and then fertilization is made in the tube, after which the grown embryo is placed in the uterine cavity. In order to reduce the likelihood of the birth of boys with such pathology, you need to minimize the impact on women during pregnancy of harmful factors, as well as if possible, do not give birth to women over the age of 35.
