ADRENOGENITAL SYNDROME IN WOMEN: CLASSIC FORM, CLINICAL CASE

Abstract

The development of adrenogenital syndrome is due to a defect in the CYP21 gene,which encodes the enzyme 21-hydroxylase, involved in the synthesis of cortisol. Theseprocesses are accompanied by an increase in the production of ACTH and an increase incortisol precursors, which are converted into androgens of the adrenal glands – a classicadrenogenital syndrome develops. With CYP21 gene point defect, an incomplete block ofthe enzyme 21-hydroxylase occurs, which leads to a mild violation of the steroidogenesisof the adrenal glands – a non-classical form of adrenogenital syndrome develops. A caseof the classic form of the disease, which manifested itself as infertility, is given.