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目的探讨非嵌合型克氏综合征患者生育遗传学意义后代的可行性。方法 1例就诊于华中科技大学同济医学院附属同济医院的男性患者,年龄29岁,多次精液分析提示无精子,查体双侧睾丸体积小,质硬,约2ml。性激素水平:卵泡刺激素37.34IU/L,黄体生成素15.69IU/L,明显升高;睾酮2.13ng/ml,稍微偏低。查染色体核型为47,XXY,Y染色体微缺失正常,确诊为非嵌合型克氏综合征。行显微睾丸取精术,同时配合女方取卵后行卵细胞胞质内单精子注射(intracytoplasmic sperm injection,ICSI),随访1个月,观察患者术后并发症及其配偶妊娠情况。结果显微睾丸取精术中找到少量活动精子,次日女方取卵后行ICSI,3d后移植2枚新鲜胚胎。术后患者未出现阴囊血肿、感染等并发症,术后随访1个月患者睾酮水平较术前偏低,但性功能未受到影响。女方移植后2周查血HCG,为801mIU/ml;移植后4周超声提示宫内早孕,单胎,胚胎存活。结论非嵌合型克氏综合征患者可通过显微睾丸取精术获取精子,同时配合ICSI技术,生育自己遗传学意义的后代。
Objective To investigate the feasibility of fertility genetics in non-chimeric Klinefelter syndrome patients. Methods A male patient aged 29 years with Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology was enrolled in this study. A number of semen analysis showed no spermatozoa. The testes of the testis were small and hard, about 2ml. Sex hormones: follicle stimulating hormone 37.34IU / L, luteinizing hormone 15.69IU / L, was significantly higher; testosterone 2.13ng / ml, slightly lower. Check the chromosome karyotype 47, XXY, Y chromosome micro-loss of normal, diagnosed as non-chimeric Klinefelter syndrome. The patients were followed up for 1 month with intracytoplasmic sperm injection (ICSI) to observe the postoperative complication and their pregnancy status. Results A small amount of spermatozoa were found in microscopic testicular aspiration. The female fetus was taken ICSI the next day, and 2 fresh embryos were transplanted after 3d. Postoperative patients did not appear scrotum hematoma, infection and other complications, postoperative follow-up 1 month testosterone levels lower than preoperative, but the sexual function was not affected. Two weeks after transplantation, the woman checked blood HCG for 801mIU / ml; 4 weeks after transplantation, it showed intrauterine early pregnancy, single embryo and embryo survived. Conclusion Patients with non-chimeric Klinefelter syndrome can acquire sperms by micro-testicular aspiration, combined with ICSI techniques, to give birth to their offspring of genetic significance.