性发育障碍的诊断与鉴别程序

性发育障碍是成因复杂、临床表型多样的一类疾病。不同病因可有相同或相似的临床表现，同一病因发生时间不同或影响程度不同所致的临床表型差异很大，给诊断带来一定困难。早期确定诊断不仅可以明确患儿性别，还直接影响治疗策略和预后。文章结合近年来性发育和分化的分子生物学和遗传学研究进展，介绍性发育障碍新的分类标准、不同病因的临床特征以及诊断和鉴别程序。

Classification and diagnosis of sexual development disorders

Disorders of sexual development(DSD)refer to a group of diseases with various causes and phenotypes.Clinical manifestations caused by different etiology could be similar.In contrast,phenotypes from the same mutation may differ in onset time and severity.Early accurate diagnosis not only can define the sex of an individual but also affect therapy and prognosis.New classification of DSD,clinical features,and differential diagnosis were reviewed in the article.Current advances of molecular biology and molecular genetics in sex development and differentiation were discussed in the article as well.