先天性肾上腺皮质增生症是肾上腺皮质激素合成过程中几种酶中任一种酶缺乏所引起的一组疾病。由于某种酶的缺乏,皮质醇合成不足,从而ACTH分泌增多,使肾上腺皮质代偿性增生。按所缺乏酶的种类和临床特征,本症分5种类型,所有类型都属常染色体隐性遗传。本文报道一例先天性肾上腺皮质增生症(11—β-羟化酶缺乏)的女性患者,并对本症的临床、诊断及治疗进行了讨论。 Congenital adrenal hyperplasia is a group of diseases caused by any lack of enzyme in several enzymes in the process of adrenal cortical hormone synthesis. Due to the lack of an enzyme, lack of cortisol synthesis, which increased ACTH secretion, compensatory proliferation of adrenal cortex. According to the lack of enzyme types and clinical features, the disease is divided into five types, all types are autosomal recessive. This article reports a case of congenital adrenal hyperplasia (11-β-hydroxylase deficiency) of female patients, and the clinical, diagnosis and treatment of the disease were discussed.