非经典型21羟化酶缺陷症的研究进展

Nonclassic 21-hydroxylase deficiency

非经典型21羟化酶缺陷症是21羟化酶缺陷症中酶活性下降较轻的一种类型。其临床表现缺乏特异性，往往仅有轻度雄激素过多症状和体征；常混杂于高雄激素血症的其他病因中，与多囊卵巢综合征的临床特征相近，易于漏诊或误诊。因其发病率高，且常合并胰岛素抵抗及其他代谢紊乱，正日益受到人们重视。本文着重从其临床特征、分子遗传学特点、诊断与治疗等方面进行系统地阐述。

Nonclassic type of congenital adrenal hyperplasia （NCAH） is caused by mild defect of 21 hydroxylasc activities resulting from CYP21A2 gene mutation. Its phenotype is usually considered as hyperandrogen related disorders, such as polycystic ovarian syndrome and frequently misdiagnosed. NCAH is becoming a major problem due to its higher incidence and accompanied with insulin resistance and other metabelic disorders. We systematically discuss the clinical features, molecular genetics, diagnosis and therapy of this disease.