本文报道5例单纯性性晚发育不全(Swyer综合征)。基因型为46,XY,表现型为女性伴性腺发育不全。3例为家族性,2例为散发性。临床特征为女性表现型,原发闭经,无青春期变化。所有患者均有幼稚子宫、正常输卵管、条索状性腺和女性外生殖器。2例有性母细胞瘤。讨论了发病机理、性腺肿瘤和处理等问题。 This article reports 5 cases of simple late hypoplasia (Swyer syndrome). Genotype 46, XY, phenotype female gonadal dysgenesis. 3 were familial and 2 were sporadic. Clinical features of female phenotype, primary amenorrhea, no change in puberty. All patients had immature uterus, normal fallopian tubes, cord-like gonads and female genitalia. 2 cases of benignoblastoma. The pathogenesis, gonadal neoplasms and treatments are discussed.