Abstract: The classic treatment for 21-hydroxylase deficiency is by supplementing glucocorticoids and minerocorticoids and controlling the production of adrenal androgens，but its long-term management is challenging. The current glucocorticoid substitution therapy has its limitations for 21-OHD patients. There are limitations in monitoring existing biochemical indicators of efficacy in 21-OHD patients. The problem of genital surgery for 21-hydroxylase deficiency women with abnormal sexual development is controversial. This paper describes the limitations of traditional glucocorticoid treatment and new treatment methods，the problems of efficacy evaluation and new evaluation methods，and the genital surgery for 21-hydroxylase deficiency women with abnormal sexual development. 

Key words: 21-hydroxylase deficiency, steroid profile, abnormal sexual development

摘要： 21-羟化酶缺乏症（21-hydroxylase deficiency，21-OHD）经典的治疗方法是补充糖皮质激素与盐皮质激素，并控制肾上腺雄激素的产生，然而其长期管理具有挑战性。现有的糖皮质激素治疗21-OHD、疗效监测生化指标存在局限性，21-OHD女性性发育异常的生殖器手术问题备受争议，该文阐述传统糖皮质激素治疗存在的局限性与新型治疗方法，疗效评估存在的问题与新的评估方法及21-OHD女性发育异常的生殖器手术问题。

关键词: 21-羟化酶缺乏症, 类固醇谱, 性发育异常