性分化异常20例分析

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。

Analysis of 20 Cases with Sex-Differentiating Abnormality

Twenty cases with sex-differentiating abnormality had been proved by analysis of the karyotype of chromosome.Three cases belonged to syndromes of abnormal sex chromosome such as Turner's syndrome,xyy syndrome and Klinefelter syndrome. The others were either syndrome of normal sex chromosome or abnormalities of phenotype including 46 xy testicle womanlike syndrome and 46 xx manlike syndrome. Acconding, to the clinical moterial patients with sex-differen-tiating abnormality are not rare, paediatrcians should pay attention to the examination of the external genitals of the patients, diagnose the disease as early as possible, and repair the abnormality by operation.we have also analyzed the morbidity, pathogenesis, clinical manifestations and treatmeat of these defects.