Adrenogenital syndrome

Adrenogenital syndrome is quite rare andexclusively hereditary disease, which is accompanied by a violation of the hormonal balance of cortisone and aldosterone - hormones of the adrenal glands. Adrenogenital syndrome, as a rule, can be determined even during intrauterine development or in the first days of the baby's life.

This disease manifests itself in insufficientthe number of enzymes responsible for the synthesis of cortisol. As a result of the decrease in the body of this hormone, the hypothalamic-pituitary bond starts to activate, which leads to the growth of those sections of glands that are responsible for the synthesis and release of androgens.

Adrenogenital syndrome: how it is inherited

In fact, the mutated gene is notdominant, and this means that it is transmitted to the family in several generations. For example, if a child was born with this disease, then both parents bear the mutated gene, and they themselves are not sick. But the grandmothers or grandfathers of the father and mother of the child also suffered adrenogenital syndrome.

Adrenogenital syndrome: symptoms and clinical manifestations

As already mentioned, the disease is accompanied by an increase in androgens - hormones, which enhance the development and work of the reproductive system.

Adrenogenital syndrome in girls is manifestedimmediately after childbirth, since the external genital organs are too developed. For example, the clitoris is large and in some ways resembles a penis, while the overgrown outer labia resembles the scrotum externally.

In the event that the presence of the disease remainsunnoticed before discharge from the hospital, then in the future begins a very rapid sexual development. Already for several weeks after the birth, the girls have a hairy pubis, and then all the other parts of the body, and the male type. This means that in newborn girls, hair grows on the face. With the further development of the disease, we can talk about some form of female hermaphroditism. In addition, the mammary glands of these girls do not develop, menstruation does not begin, although the uterus and the ovaries develop normally and according to the age of the child.

Adrenogenital syndrome in boys does not havebright signs immediately after birth. But after a few weeks, noticeably a significant increase in the penis - its size does not correspond to age. At the same time, the testes develop normally, as in any healthy newborn.

Such children have some common features of development. For example, they grow very quickly and ripen. But the growth zones are quickly closing, and therefore people remain short. In addition, they are distinguished by a low, rude voice, both in girls and boys.

With a more severe form of the disease, there is also a violation of salt metabolism, an increase in blood pressure.

Adrenogenital syndrome and methods of its treatment

It is worth noting that the success of treatment in many waysdepends on how quickly it starts. Previously, this genetic disease was not amenable to any treatment, but at the time when the mechanisms of its development were deciphered, the method of treatment became clear.

Patients need cortisol, whichinhibits the pituitary and hypothalamus, and, consequently, reduces the level of androgens in the blood. Of course, the intake of cortisol is needed throughout the life of a person.

In addition, with late detection of the disease,girls sometimes need plastic surgery on the external genitalia, during which the clitoris is cut and the shape and size of the labia are corrected. With proper and regular treatment for such women, even a normal pregnancy is possible.

In the event that adrenogenital syndrome is accompanied by disruption of the excretory system, immediate appropriate treatment is needed.