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目的 :探讨表型女性伴月经异常、细胞遗传学检查存在 Y染色体的患者染色体组型与临床表现的关系.方法 :对月经异常患者抽血行染色体组型检查 ,采用 G显带分析或常规染色体分析.结果 :发现 3 0例患者含 Y染色体 ,其组型分别为 2 5例 4 6,XY,3例 4 6,XX/ 4 6,XY及 2例 4 5 ,X/ 4 6,XY. 4 6,XY组型中 16例表现为睾丸女性化综合征 ,7例单纯性 XY性腺发育不全 ,1例卵巢早衰 ,1例混合性性腺发育不全 ;4 6,XX/ 4 6,XY组型中 1例真两性畸形 ,2例性腺发育不全 ;组型为 4 5 ,X/ 4 6,XY的 2例患者 ,表现类似特纳 ( Turner)综合征.结论 :含 Y染色体、表型女性伴月经异常的患者 ,临床表现多数为原发性闭经 ,个别为继发性闭经.真两性畸形患者 ,可有周期性月经.患者的诊断取决于临床表现、染色体组型分析、手术或腹腔镜检查所见.“,”Objective: To investigate the relationship between the chromosomal karyotypes and clinical manifestations in those patients whose phenotypes were female associated with abnormal menstruation and Y chromosome in cytogenetic examination Methods:The patients with abnormal menstruation were investigated by chromosomal karyotype with conventional method or G banding analysis Results:Out of 30 patients who were found containing Y chromosome,there were 25 with 46,XY karyotype and 3 with 46,XX/46,XY;2 with 45,X/46,XY Among 25 cases in which karyotypes were 46,XY,16 were testicular feminization syndrome,7 were 46,pure XY gonadal dysgenesis Premature ovarian failure and mixed gonadal dysgenesis were found in 1 respectively Of 3 patients whose karyotypes were 46,XX/46,XY,2 demonstrated gonadal dysgenesis while another one was true hermaphrodism Two cases,which had mosaic karyotype 45,X/46,XY,appeared like Turner syndrome Conclusion:In the patients who have female phenotype with abnormal menstruation but contain Y chromosome,mostly,they demonstrate primary amenorrhea,on occasion,secondary amenorrhea can be found On case of true hermaphrodism menstruation can be normal The clinical diagnosis depends on the differences of karyotype,clinical manifestations,as well as the laparoscopic or surgical findings