Congenital Adrenal Hyperplasia: A Comprehensive Review

The document from 2017 provides a detailed review of Congenital Adrenal Hyperplasia (CAH), an autosomal recessive disorder primarily caused by 21-hydroxylase deficiency due to mutations in the CYP21A2 gene. It describes the spectrum of clinical features associated with CAH, which affect growth, puberty, fertility, and secondary sexual characteristics, and emphasizes the importance of early diagnosis and treatment to prevent severe outcomes like hyponatremia, hyperkalemia, and hypotension in infants. The review covers the molecular genetics, pathophysiology, and clinical manifestations of CAH, including the increased flux through the alternative steroidogenesis pathway leading to androgen excess and prenatal virilization. It also discusses the diagnostic methods, such as hormone determinations and ACTH stimulation tests, and the use of glucocorticoid and mineralocorticoid therapies for management. Additionally, the document addresses the transition to self-care, sexuality, fertility, pregnancy, bone health, and other complications like adrenal rest tumors and adrenal myelolipomas in CAH patients, highlighting the need for individualized care and proper management to improve outcomes.