关键词:

先天性肾上腺增生症, 非经典型 21?羟化酶缺乏症, 17?羟基孕酮, CYP21A2 基因, 多囊卵巢综合征, 生育力

Abstract:

Non⁃classical 21⁃hydroxylase deficiency（NC⁃21OHD）is one of the most frequent autosomal recessive hereditary diseases. Its phenotype is usually considered diverse and lack specificity，such as polycystic ovarian syndrome（PCOS）and frequently misdiagnosed. Meanwhile，evidence ⁃ based diagnosis and follow ⁃ up management strategies faces many difficulties and many controversial scientific problems due to NC ⁃ 21OHD. We systematically discuss the clinical features，diagnosis and therapy to improve the awareness of the disease.

Key words:

congenital adrenal hyperplasia, nonclassic 21?hydroxylase deficiency, 17?hydroxyproges? terone, CYP21A2 gene, polycystic ovary syndrome, fertility