Congenital dysfunction of the adrenal cortex

In this article, we want to talk about a problem such as dysfunction of the adrenal cortex, it is very common in humans, transmitted by inheritance. The adrenal glands are responsible for the secretion of corticosteroids, which, in turn, are divided into 4 groups:

1. Androgens;
2. Estrogens;
3. Glucocorticoids;
4. Mineralocorticoids.

In the adrenal glands of the fetus, cortisol begins to be synthesized very early, so the defect of enzyme systems is to virilize before the birth of the baby. In this period, the internal genital organs are already formed, so virilization can affect the child's external genitalia.

Enzyme defects can be of various types, but the deficiency of 21-hydroxy-silicate is the most common. There are two clinical forms: salt and virile syndromes.

Viral syndrome has a partial deficiency of 21-hydroxylase. Accordingly, in the viril form, the functions of the adrenal cortex are compensated by increased secretion of ACTH.

As a result of the release of ACTH, a significant amount of androgens, progesterones, is formed. They act depressingly on the salt-retarding activity in the tubules of the kidneys, and this leads to an increase in the production of aldosterone. Girls with viril syndromes have a sign of false hermaphroditism since birth. The clitoris is hypertrophic. In its structure, it is similar to the penis, which has one genitourinary opening. Sinus urogenital, which is located at the base of the clitoris, has scrotum-like enlarged labia.

Congenital adrenal cortex dysfunction is a hereditary disease. As already noted, it is characterized by a violation of the synthesis of a corticosteroid.

Boys with this birth disorder are distinguished by an enlarged penis. The skin on the scrotum is wrinkled. Pigmentation of the penis, anterior abdominal line, scrotal skin is expressed.

Subsequently, the increase in androgen secretion continues. Children with congenital adrenal dysfunction grow faster, their muscles are more developed than their peers. But this happens to about 8-9 years. But after that growth stops and they remain undersized. Approximately in 2-4 years the child may have hair follicles on the pubis, face, armpits. With the development of some boys, there is also an increase in the penis. Sometimes there is an erection.

Girls have a mangy, muscular body. Menstruation in girls does not occur in the pubertal period, the mammary glands do not develop. This is due to the increased secretion of androgens of the adrenal gland, which inhibits the release and formation of gonadotropins. Based on the same reason, boys do not develop testicles, they are small in size.

The salt-losing form of 21-hydroxylase deficiency is deeper, because together with the violation of cortisol formation, the biosynthesis of aldosterone is sharply reduced. This action leads to acute adrenal insufficiency.

Soltering syndrome in newborn babies is expressed in severe virilization, especially for girls. In patients, complete incubation of the sexual fissure is noted, there is a formation in the form of a scrotum. On the 5th-9th day after the birth of a child, his condition worsens. He often vomits, there is a loose stool. The child becomes less active, the body weight decreases. In the blood of the child, dehydration occurs, the calcium level rises, sodium decreases.

Treatment of dysfunction of the adrenal cortex.

The most acceptable treatment for treatment is prednisolone. This drug is able to maintain the necessary concentration for a long time, and prednisolone also has, although not pronounced, mineralocorticoid action. The daily dose of specialists is selected individually for each patient. Children under 3 years old are prescribed from 1 year, 5-3 mg, to older children about 5 mg. Less commonly used cortisone, dexamethasone.

Prednisolone administration is mainly prescribed for the early morning( 6 am) and late evening( 23 hours).This schedule of taking medications corresponds to the daily physiological rhythm of the human body. Glucocorticoids should be given to a sick person regularly, otherwise the abolition of the drug may lead to decompensation of the disease.

Patients with a salt form should also take mineralocorticoids in addition to corticosteroids. This can be either deoxycorticosterone acetate in the form of an oil solution, or cortinefs in the form of tablets.

Some patients as mineralocorticoids are prescribed table salt, which must be added to food. With this form of the disease, it is necessary to monitor weight, pressure, and regularly conduct ECG examinations.

It is worth noting that the initial dose of a corticosteroid should be twice the physiological dose.

With proper treatment and compliance with all the recommendations in children with the disease "dysfunction of the adrenal cortex" there is a decrease in muscle hypertrophy, redistribution of subcutaneous fat, regression of hair. If the child's treatment has begun even before the growth zones are closed, then the child begins to grow with time. In advanced stages, therapy does not help, and the baby remains short.

Congenital dysfunction of the hypertonic form is treated like a viril form.

In case of acute adrenocortical failure, intravenous drip treatment( physical solution and 5% glucose solution) is prescribed. Assign droppers in four steps. Within a few days the patient's condition improves, and the dose of glucocorticoid decreases.

This disease sometimes negatively affects the psyche of the child, so psychotherapy is mandatory. Especially it concerns those cases when it is necessary to change the sex of the child. A large number of girls with adrenal cortex disease need feminizing plasty of the external genital organs, namely the removal of the enlarged clitoris, the formation of small labia. But the correction of the external genitalia is made one year after the appointment of corticosteroids.