Congenital adrenal hyperplasia

Congenital Adrenal Hyperplasia (CAH) is a group of diseases with an autosomal recessive inheritance pattern, which are caused by a defect in the enzymes involved in steroidogenesis in the adrenal cortex. Depending on the enzyme block variant, the spectrum of clinical manifestations of CAH varies from mild symptoms to potentially fatal disorders. The review provides a detailed analysis of the six main forms of CAH (lipoid hyperplasia, HSD3B2, CYP17A1, CYP21A2, CYP11B1, POR) with an in-depth description of their molecular basis, pathogenesis, and clinical and laboratory manifestations. Particular attention is paid to modern methods of genetic diagnosis of CAH, including analysis of the highly homologous CYP21A2 locus, prenatal and preimplantation diagnosis. Not only modern approaches to replacement therapy are described in detail, but also promising methods of treatment: corticotropin-releasing hormone receptor antagonists, gene- and cellbased technologies. The study's strength lies in its comprehensive analysis of the disease, spanning fundamental research to practical patient management, as applied to the realities of clinical practice in Russia.

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