Future Directions in the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Kyriakie Sarafoglou, Richard J. Auchus
Abstract
CONTEXT: The traditional management of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) is difficult and often suboptimal. OBJECTIVE: To review improvements in the diagnosis and management of 21OHD. DESIGN: Literature review, synthesis, and authors' experience. SETTING: United States (2 centers). PARTICIPANTS: Not applicable. INTERVENTIONS: Not applicable. MAIN OUTCOMES: Not applicable. RESULTS: The 11-oxygenated androgens are abundant in 21OHD, and their measurement might improve diagnosis and medication titration. Several new treatments are under development. CONCLUSION: Circadian delivery of hydrocortisone improves disease management of 21OHD compared to conventional glucocorticoids. Glucocorticoid-sparing therapies such as crinecerfont and atumelnant offer the potential for a block-and-replace strategy, with physiologic replacement dosing of hydrocortisone. CLINICAL TRIAL REGISTRATION: None.