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先天性肾上腺增生症是引起性发育异常最常见的病因,包括46,XX和46,XY性发育障碍。随着遗传学和分子生物学进展,人们对其发病机制以及基因型和表型之间关系的认识不断深入。本文从性别决定和性发育过程阐述先天性肾上腺增生症的临床特征和发生机制。
Congenital adrenal hyperplasia is the most common cause of sexual dysplasia, including 46, XX and 46, XY developmental disorders. With advances in genetics and molecular biology, people’s understanding of the pathogenesis and the relationship between genotypes and phenotypes has deepened. This article describes the clinical characteristics and pathogenesis of congenital adrenal hyperplasia from the process of sex determination and sexual development.