RESULTS OF TREATMENT OF FEMALE PATIENT WITH CONGENITAL ADRENAL CORTICAL DYSFUNCTION, DUE TO 21-HYDROXYLASE DEFICIENCY: FROM VIRILIZATION TO FERTILITY REALIZATION

Congenital adrenal cortical dysfunction due to 21-hydroxylase deficiency is a genetic disease with an autosomal recessive inheritance, which is manifested by symptoms of a deficiency of the vital adrenocortical hormones, cortisol and aldosterone, and excessive production of adrenal androgens, up to complete masculinization in females. The severity of clinical manifestations of the disease is determined by the degree of loss of 21-hydroxylase activity, from life-threatening crises in the salt-losing form of the disease to asymptomatic course. The clinical picture correlates with the type 21-hydroxylase gene mutation, which emphasizes the importance of molecular-genetic diagnosis of the disease. Timely prescribed and adequate hormonal therapy allows for regression of clinical manifestations and provides a good socio-psychological adaptation for patients. The article presents a clinical case of a patient with a late identified simple virilic form of the disease and pronounced virilization, as well as the results of her treatment. The patient showed congenital dysfunction of the adrenal cortex due to a defect of 21-hydroxylase at the age of 22 years. The diagnosis was confirmed by laboratory and molecular-genetic studies. Despite late diagnosis and late treatment, regression of virilization, as well as normalization of menstrual and reproductive functions was achieved. After 9 years of adequate therapy, the patient had a pregnancy that ended with childbirth.

congenital adrenal cortical dysfunction, 21-hydroxylase, virilization, glucocorticoids, mineralocorticoids, molecular genetic diagnosis, clinical case