Federal clinical practice guidelines on the management of the patients presenting with congenital adrenal hyperplasia

Clinical practice guidelines on Congenital Adrenal Hyperplasia (CAH) give a brief review of epidemiology, etiology and pathogenesis of all disease causative steroidogenic defects. Recommendations on neonatal screening and management of early-diagnosed CAH due 21-hydroxylase deficiency were given in details. We also included the algorithm for the hormonal treatment and management of the patients of different age. Prenatal and preimplantation genetic diagnosis of 21-hydroxylase deficiency has been also discussed.