Future Directions in the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Sarafoglou, Kyriakie; Auchus, Richard J · J Clin Endocrinol Metab · 2025

review · Level V

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Abstract

The traditional management of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) is difficult and often suboptimal. To review improvements in the diagnosis and management of 21OHD. Literature review, synthesis, and authors' experience. United States (2 centers). Not applicable. Not applicable. Not applicable. The 11-oxygenated androgens are abundant in 21OHD, and their measurement might improve diagnosis and medication titration. Several new treatments are under development. 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. None.

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