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Klaynfelter's syndrome

Klaynfelter's syndrome represents a genetic disorder in the man's organism. The illness received the name in honor of the American doctor Harry Klaynfelter who the first described this problem still in the twenties of the last century.

This illness is characterized by existence in an organism of the man of an excess female sexual X-chromosome. Thus in an organism concentration of testosterone goes down, activity of sexual glands worsens, the structure of genitals also changes, in particular, small eggs have uncharacteristically small size.

Klaynfelter's syndrome is congenital, but thus it is not descended. After all the most part of such patients simply on are simply infertile. Thus this anomaly of sexual chromosomes existence in DNA of one or several excess female X-chromosomes in a man's karyotype of XY is characteristic. For example, at this illness in an organism there is a set of chromosomes which XXY, XXXY or XXXXY looks. Though in a healthy organism this set has to look as XY.

In spite of the fact that the disease is congenital, it cannot be revealed without genetic tests prior to the beginning of the puberty period. Therefore many learn about this problem approximately after age of 12-14 years. To this age development of the boy does not give to parents a reason for concern. One of the first signs of a syndrome of Klaynfelter is reduction in sizes of small eggs which developed normally before. Thus in an organism of the teenager the quantity of cages which develop man's sexual hormones in the necessary quantities decreases.

It is remarkable that this disease meets not so seldom. Statistically the frequency of existence of pathology averages - one case on 500 males. It is also necessary to note that this syndrome is the third in the list of widespread endocrine diseases at men. Only diabetes and hyperfunction of a thyroid gland meets more often.

The similar genetic disorder develops when at the initial stages of formation of spermatozoa and ova there is a divergence of chromosomes. In general according to researches, this syndrome is the most frequent reason of congenital violation of genital function at a male today. Many men do not even suspect about existence at them of a disease, will not see a doctor yet and will not pass necessary researches. Most often they come to hospital with complaints to infertility and violation of an erection.

Symptoms

At once It should be noted that there are some forms of this pathology at which there is no change of appearance of the man. In such cases of patients, as a rule, disturbs only infertility. Directly pathology comes to light only on the basis of the data obtained when carrying out diagnostics.

In other cases at patients such changes in external signs as the high growth, long extremities, the increased body weight, characteristic for female type are noted. Approximately at a half of patients the increase in mammary glands is observed. Also at patients with such illness the sexual inclination can decrease and raise tendency to addictions. In addition at each patient with such syndrome the small size of a penis and underdeveloped small small eggs is noted. Thus emergence of hair in the person in men to Klaynfelter's syndrome happens later and to smaller intensity. Besides approximately at a half of patients problems of intellectual development and violation of normal behavior are also noted. Perhaps also emergence of various pathologies of bone tissues. In particular, deformation of a thorax, a curvature of fingers of hands, deformation of hips and a forearm, and also not union of a hard palate can be observed. Quite often heart disease and various new growths is diagnosed for such patients.

In spite of the fact that the main symptoms at boys with this syndrome are shown only at teenage age, doctors will manufacture some characteristic signs which can be shown much earlier. So, for example, boys with this genetic pathology usually have high growth. And most of all the increase in growth occurs at the age of 5-8 years. In addition it is impossible to pay attention to violation of a proportion of a constitution. In particular the overestimated waist, excessively long hands and feet is observed. Besides deviations in intellectual development are observed. For example, such boys often receive bad notes at school because badly perceive a training material aurally. Sometimes at such patients the delay of speech development is observed. With Klaynfelter's syndrome it is difficult to people to introduce the idea, even being already at youthful or young age. This syndrome also has impact on a potentiality. And complaints generally begin after 25 years. The sexual inclination can be normal or completely be absent. Therefore the most exact symptom of this illness is considered infertility.

Diagnostics

To reveal Klaynfelter's syndrome, it is necessary to carry out laboratory diagnostics of blood for determination of level of man's sexual hormones. In addition it is worth remembering that this disease has some symptoms which are similar to the symptoms of other diseases proceeding with violation of work of sexual system. Therefore carrying out differential diagnostics is necessary. Anyway it is possible to make the exact diagnosis only by results of genetic researches, namely studying of a set of chromosomes.

Treatment

The patient with this illness usually appoints hormonal therapy by means of testosterone introduction. By means of reception of hormones it is possible to achieve that sexual signs will start being shown in due time. It is desirable to begin reception of hormones with age of 13-14 years that in many respects will help normal development of intelligence. Therefore the earlier this pathology was revealed, the its treatment will be more effective. It is desirable that adequate therapy was begun before the end of puberty. By means of such replacement therapy it is possible to suppress manifestation of external symptoms of an illness, but it is worth to remember that this syndrome leads to infertility which is incurable.

Adequate treatment is capable to prevent muscular weakness and development of osteoporosis. If such pathologies already developed, by means of treatment it is possible to return bones and the patient's muscles to a normal state. If the increase in mammary glands is too expressed, the question of their surgical removal is raised. At treatment it should be taken into account that this illness also postpones a noticeable trace on psychological health of the person. Patients with Klaynfelter's syndrome can be very sensitive and hypochondriac to words of other people. Therefore that people with a syndrome thought of the problem less, it is necessary to focus attention on their illness as little as possible. At this pathology often there are associated diseases, for example, diabetes of the second type and obesity. For their prevention the patient needs to keep to special diets, and also to watch the weight.

Forecast

The forecast of life of patients with Klaynfelter's syndrome usually favorable. Such people are capable to work normally. However, besides it in many respects depends on a condition of their mentality. As for the forecast concerning restoration of ability to fertilization, it is extremely adverse. Nevertheless, today there are data that by means of achievements of modern medicine possibly appearance of healthy children in such patients by means of use of such technology, as extracorporal fertilization. At this procedure at the patient suitable cages and fabrics of small eggs undertake, then from them germinal cages are allocated, and then fertilization in a test tube then the grown-up embryo is located in a uterus cavity is made. To reduce probability of the birth of boys with such pathology, it is necessary to minimize impact on women during pregnancy of harmful factors, and also whenever possible not to give birth to women 35 years aged are more senior.

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