本文报道小儿性分化异常疾病20例(包括先天性卵巢发育不全综合征4例、先天性睾丸发育不全综合征1例、女性假两性畸型9例、男性假两性畸型2例、真两性畸型4例),对上述病例进行了细胞染色体核型分析,同时作了口腔上皮细胞性染色质、中性粒细胞核鼓植体及尿17酮类固醇、17羟类固醇的检查。复习文献并对小儿性分化异常疾病进行讨论。 This article reports 20 cases of abnormal sexual differentiation in children, including 4 cases of congenital ovarian hypoplasia syndrome, 1 case of congenital testicular hypoplasia syndrome, 9 cases of female biannual malaria, 2 cases of males maternal bisexuality, 4 cases of bisexual deformity ), Karyotype analysis of the cells in the above cases, at the same time made the oral epithelial cell chromatin, neutrophil nuclear booting implants and urinary 17 ketone steroids, 17 hydroxysteroid examination. Review the literature and discuss the disorders of sexual differentiation in children.