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Published on: October 2, 2018
Future Directions in the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Kyriakie Sarafoglou1,2, Richard J Auchus3,4
1Departments of Pediatrics, Divisions of Pediatric Endocrinology and Genetics & Metabolism, University of Minnesota Medical School, Minneapolis, MN 55454, USA.
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.
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