Congenital Adrenal Hyperplasia: A Comprehensive Review
April 2017
in “
Journal of Pediatric and Adolescent Gynecology
”
Congenital Adrenal Hyperplasia 21-hydroxylase deficiency CYP21A2 gene androgen excess prenatal virilization steroidogenesis glucocorticoid therapy mineralocorticoid therapy ACTH stimulation test adrenal rest tumors adrenal myelolipomas CAH 21-hydroxylase CYP21A2 androgen virilization steroid glucocorticoid mineralocorticoid ACTH test adrenal tumors myelolipomas
TLDR The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
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.
