Adrenogenital syndrome

Adrenogenital syndrome (congenital adrenal cortex dysfunction, congenital hyperplasia of the adrenal cortex) is a group of hereditary diseases, which are based on enzyme deficiency at various levels of synthesis of steroid hormones of the adrenal cortex - cortisol and aldosterone. Type of inheritance is autosomal recessive. Frequency 1: 5000-1: 6500.

Pathogenesis. Hereditary defects in enzyme systems (in most cases deficiency or deficiency of 21-hydroxylase and deficiency of 11-hydroxylase, less often 3-beta-ol dehydrogenase deficiency, deficiency of 18- and 77-hydroxylases, deficiency of 20-22 desmolases, etc.). Leads to a decrease in blood levels of cortisol and aldosterone. Synthesis of sex hormones is not disturbed in the adrenal cortex. A low level of cortisol in the blood on the principle of feedback stimulates the hypothalamic-pituitary system and increases the secretion of ACTH. In turn, a high level of ACTH promotes hyperplasia of the adrenal cortex of the zone in which the synthesis of hormones, androgen, is not violated. Simultaneously with androgens, intermediate products of cortisol synthesis are formed. Depending on the nature of the enzymatic defect, the following forms of ACS are isolated: virile (simple, compensated) and salt-losing.

Viral form is the most common form of the syndrome; It is due to partial deficiency of 21-hydroxylase. With this form, only the synthesis of glucocorticoids is disturbed, which is partially compensated by adrenal hyperplasia and leads to a cladent adrenal insufficiency. Hyperproduction of androgens, which begins in utero, leads to androgenization of secondary sexual characteristics of the fetus and the birth of girls on the grounds of false female hermaphroditism, and boys - with an enlarged penis. There is hyperpigmentation of the external genitalia, skin folds, areola around the nipples, anus. If the diagnosis after birth is not delivered, then the appearance of signs of premature puberty (on average in 2-4 years), accompanied by masculinization, early sexual hairspring, low voice, acne vulgaris, acceleration of growth is characteristic in the future. Due to the early closure of growth zones, children remain stunted. The degree of severity of these symptoms can vary within fairly wide limits.

The diagnosis, in addition to the history and clinic data, is based on radiographic data of the hands (acceleration of bone age), the detection of increased urinary 17-ketosteroids excretion (17-CS), decreased 17-oxycorticosteroid excretion, high blood levels of ACTH, 17- Hydroxyprogesterone.

Differential diagnosis is performed with adrenal insufficiency, hermaphroditism of another genesis, various variants of premature puberty, an androgen-producing adrenal tumor.

Treatment. Glucocorticoids for life. The dose is selected individually under the control of 17-CS in daily urine. Psychotherapy. If necessary, plastic of the external genitalia is performed - vaginal plastic, clitorectomy.

The prognosis with timely begun treatment for life is favorable. The soltering form (more rare, is caused by a full block of 21-hydroxylase). With this form, the synthesis of not only glucocorticoids (hydrocortisone, cortisone) but also mineralocorticoids (aldosterone) is disturbed, which leads, in addition to androgenation, to an intensified withdrawal from the body of sodium and chlorides and to hyperkalemia. The earliest symptoms, in addition to androgenation, are the fountain, which is noted from the birth of vomiting, usually not associated with food intake, liquid stools. Develops an exsicosis, cramps are possible. The progressive violation of the water-salt balance results in a collapse and heart rhythm disorder, and then a lethal outcome occurs. The clinical picture with this form resembles pyloric stenosis (pseudopylosthenosis).

The diagnosis is based on the same criteria as in the viril form. Differential diagnosis, in addition to the diseases indicated in the viral form, is performed with pyloric stenosis, intestinal infections, toxic syndrome.

Treatment. Glucocorticoids are used, as in the viril form, but in combination with mineralocorticoids (deoxycorticosterone acetate-DOXA).

The prognosis with timely begun treatment is relatively favorable. The hypertensive form, the rarest, is due to the deficiency of 11-hydroxylase, as a result, as with the viril form, the synthesis of cortisol decreases and the production of androgens increases. The synthesis of mineralocorticoids reduces the formation of aldosterone, but 11-deoxycorticosterone accumulates in high amounts (11-hydroxylase in healthy individuals). It has mineralocorticoid properties and promotes sodium retention in the body, which causes long-term arterial hypertension complicated by hemorrhages in the brain with the development of hemiparesis, cardiac decompensation, changes in the fundus, renal vessels, etc. The manifestation of the process comes after Zlata, but there is an earlier onset .

Diagnosis and differential diagnosis are the same as in the viril form, but taking into account arterial hypertension.

Treatment is the same as with viril form. The prognosis for life with timely treatment is favorable. Therapy with corticosteroids has the character of a substitutive and ensures the normal development of the child. Prophylaxis is medical genetic counseling.