【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。更多还原

【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. Thecurrent glucocorticoid substitution therapy has its limitationsfor 21-OHD patients. There are limitations in monitoringexisting biochemical indicators of efficacy in 21-OHDpatients. The problem of genital surgery for 21-hydroxylasedeficiency women with abnormal sexual development iscontroversial. This paper describes the limitations oftraditional glucocorticoid treatment and new treatmentmethods,the problems of efficacy evaluation and newevaluation methods, and the genital surgery for 21-hydroxylase deficiency women with abnormal sexualdevelopment.更多还原