本文性分化异常20例经染色体核型分析证实:性染色体异常综合征3例,含Turner综合征、xyy综合征、xxy综合征;性染色体正常而表现型异常综合征17例,含46xy睾丸女性化综合征、46xx男性化综合征。资料表明,性分化异常患者并非罕见,儿科医生应重视小儿外生殖器的检查,力争尽早发现,手术矫治。并对发病率、发病原因、临床表现及治疗等进行了分析。 In this paper, 20 cases of abnormal differentiation of chromosome karyotype analysis confirmed that: 3 cases of sexually transmitted chromosomal abnormalities syndrome, including Turner syndrome, xyy syndrome, xxy syndrome; sex chromosome abnormalities in normal and phenotypic syndrome in 17 cases, 46xy testis female Syndrome, 46xx masculine syndrome. Data show that patients with abnormal sexual differentiation is not uncommon, pediatricians should pay attention to the pediatric external genital examination, and strive to find out as soon as possible, surgical correction. And the morbidity, etiology, clinical manifestations and treatment were analyzed.