Adrenogenital Syndrome (Congenital Adrenal Cortical Dysfunction, Congenital Adrenal Cortical Hyperplasia)

A group of hereditary diseases that are based on enzyme deficiency at various levels of the synthesis of steroid hormones of the adrenal cortex - cortisone and aldosterone. The type of inheritance is autosomal recessive. Frequency 1: 5000-1: 6500.

Pathogenesis. A hereditary defect in enzymatic systems (in most cases, deficiency or insufficiency of 21-hydroxylase and deficiency of 11-hydroxylase) leads to a decrease in the levels of cortisone and aldosterone in the blood. The synthesis of sex hormones in the adrenal cortex is not disrupted.

Low levels of cortisol in the blood, by feedback principle, stimulate the hypothalamic-pituitary system and increase the secretion of ACTH. In turn, a high level of ACTH promotes hyperplasia of the adrenal cortex precisely in the zone in which the synthesis of hormones, mainly androgens, is not impaired. Simultaneously with androgens, intermediate products of cortisone synthesis are formed.

Depending on the nature of the enzymatic defect, the following forms of adrenogenital syndrome are distinguished: virile (simple, compensated) and salt-wasting. The virile form is the most common form of the syndrome; it is caused by partial deficiency of 21-hydroxylase. In this form, only the synthesis of glucocorticoids is disrupted, which is partially compensated by adrenal hyperplasia and leads to latent adrenal insufficiency. Hyperproduction of androgens, which begins in utero, leads to androgenization of the secondary sexual characteristics of the fetus and the birth of girls with cytostatic signs of false female hermaphroditism, and boys with an enlarged penis.

The diagnosis is based on anamnesis and clinical data, the results of x-rays of the hands (acceleration of bone age), detection of increased urinary excretion of 17-ketosteroids (17-KS), decreased excretion of 17-hydroxycorticosteroids, high blood levels of ACTH, 17-hydroxyprogesterone.

Treatment. Glucocorticoids for life. The dose is selected individually under the control of 17-KS content in daily urine. Psychotherapy.

The prognosis for life with timely initiation of treatment is favorable.

Salt-wasting form (more rare, caused by a complete block of 21-hydroxylase). In this form, the synthesis of not only glucocorticoids (hydrocortisone, cortisone), but also mineralocorticoids (aldosterone) is disrupted, which leads, in addition to androgenization, to increased removal of sodium and chlorides from the body and to hyperkalemia.

The diagnosis is based on the same criteria as for the virile form. Glucocorticoids are used, as in the viril form, but in combination with mineralocorticoids (deoxycorticosterone acetate - DOXA). The prognosis for timely treatment is relatively favorable.

The hypertensive form is the rarest, caused by a deficiency of 11-hydroxylase, as a result of which, as with the viril form, the synthesis of cortisone decreases and the production of androgens increases.

Diagnosis and differential diagnosis are the same as for the virile form, but taking into account arterial hypertension. Treatment is the same as for the virile form.

The prognosis for life with timely treatment is favorable. Corticosteroid therapy is replacement therapy and ensures normal development of the child.

Prevention - medical and genetic counseling.