Sarafoglou Kyriakie, Auchus Richard J
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.
J Clin Endocrinol Metab. 2025 Jan 21;110(Supplement_1):S74-S87. doi: 10.1210/clinem/dgae759.
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.
因21-羟化酶缺乏（21OHD）导致的经典型先天性肾上腺皮质增生症的传统管理困难且往往效果欠佳。
综述21OHD诊断和管理方面的进展。
文献综述、综合分析及作者经验。
美国（2个中心）。
不适用。
不适用。
不适用。
11-氧代雄激素在21OHD中含量丰富，对其进行检测可能会改善诊断和药物滴定。几种新的治疗方法正在研发中。
与传统糖皮质激素相比，氢化可的松的昼夜给药方式可改善21OHD的疾病管理。如克立西芬和阿图美南等糖皮质激素节省疗法提供了一种阻断并替代策略的可能性，即采用氢化可的松的生理替代剂量。
无。
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