Nonclassic Congenital Adrenal Hyperplasia: Pathophysiology, Genetics, and Management

The document reviews nonclassic congenital adrenal hyperplasia (NCAH), a common autosomal recessive disorder characterized by androgen excess due to 21-hydroxylase deficiency, with varying prevalence. It discusses the pathophysiology, genetics, and management of NCAH, noting subfertility and elevated progesterone in women, and oligospermia and testicular adrenal rest tumors in men. Treatment should focus on symptoms, not just hormone levels, and be individualized, with phenotype generally correlating with genotype. The review also addresses the phenotypic spectrum of defects in other steroidogenic pathway components and emphasizes the importance of individualized treatment plans.