摘要21-羟化酶缺乏症(21-OHD)是一种常染色体隐性遗传性疾病,由于肾上腺类固醇激素合成过程中21-羟化酶缺乏或活性减低导致醛固酮、皮质醇合成减少,肾上腺来源雄激素增多.近几年肾上腺雄激素合成的“后门”代谢途径及肾上腺的特异性11-氧合C19类固醇在21-OHD的作用被认识,一些特异性的肾上腺来源的雄激素正逐渐成为21-OHD诊断、治疗和监测的指标.在原有糖皮质激素及盐皮质激素替代治疗基础上,新的药物和治疗方法被逐渐研发和应用于临床.现就21-OHD诊断、治疗及监测的最新进展进行阐述.

abstracts21-hydroxylase deficiency (21-OHD) is an autosomal recessive hereditary disease,which results in reduced synthesis of aldosterone and cortisol and increased adrenal androgens due to lack or reduced activity of 21-hydroxylase during the synthesis of adrenal steroids.In recent years,the " backdoor" metabolic pathway of adrenal androgen synthesis and the role of adrenal specific 11-oxygenated C19 steroid in 21-OHD have been recognized,and some adrenal specific androgen sources are gradually becoming diagnostic and therapeutic indicators for 21-OHD.On basis of original glucocorticoid and salt corticosteroid replacement therapy,new drugs and treatments are gradually developed and applied in clinical practice.Nov,the latest progress in diagnosis,treatment and monitoring of 21-OHD is reviewed.