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

Kyriakie Sarafoglou, Richard J Auchus

Journal: The Journal of clinical endocrinology and metabolism 2025;110(Supplement_1):S74-S87

PMID: 39836617

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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.

Address: Departments of Pediatrics, Divisions of Pediatric Endocrinology and Genetics & Metabolism, University of Minnesota Medical School, Minneapolis, MN 55454, USA.; Department of Experimental and Clinical Pharmacology, University of Minnesota School of Pharmacy, Minneapolis, MN 55455, USA.; Departments of Pharmacology and Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; LTC Charles S. Kettles Veterans Affairs Medical Center, Ann Arbor, MI 48105, USA.

DOI: 10.1210/clinem/dgae759