21-羟化酶缺乏所致经典型先天性肾上腺皮质增生症的未来管理方向
Future Directions in the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
作者信息
Sarafoglou Kyriakie, Auchus Richard J
机构信息
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.
出版信息
J Clin Endocrinol Metab. 2025 Jan 21;110(Supplement_1):S74-S87. doi: 10.1210/clinem/dgae759.
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.
背景
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。
目的
综述21OHD诊断和管理方面的进展。
设计
文献综述、综合分析及作者经验。
地点
美国（2个中心）。
参与者
不适用。
干预措施
不适用。
主要结局
不适用。
结果
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。
结论
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。
临床试验注册
无。
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