45,X/46,XY混合性性腺发育不全患者采用卵母细胞捐赠获得活产1例及文献复习  

Live birth achieved by oocyte donation in a patient with 45,X/46,XY mixed gonadal dysgenesis:A case report and literature review

作　　者：郑露 马金召 许娟娟 崔英霞 姚兵 陈莉 ZHENG Lu;MA Jin-zhao;XU Juan-juan;CUI Ying-xia;YAO Bing;CHEN Li(Center of Reproductive Medicine,Jinling Hospital Afiliated to Nanjing University School of Medicine/General Hospi-tal of Eastern Theater Command,Nanjing,Jiangsu 210002,China)

机构地区：[1]南京大学医学院附属金陵医院/东部战区总医院生殖医学科,江苏南京210002

出　　处：《中华男科学杂志》2024年第5期410-418,共9页National Journal of Andrology

基　　金：国家自然科学基金面上项目(81973965)。

摘　　要：目的:探讨45,X/46,XY混合性性腺发育不全的病因、诊断、治疗、受孕及分娩的临床特点,提高对此类患者的诊治及妊娠管理水平。方法:回顾性分析1例45,X/46,XY混合性性腺发育不全妊娠患者的临床资料并结合相关文献进行讨论。结果:通过患者第二性征发育不全、条索状性腺、染色体核型与社会性别不符等临床特征,结合性腺组织染色体畸变检测结果,确诊患者为45,X/46,XY混合性性腺发育不全,并给予“卵母细胞捐赠ICSI-ET治疗”获得活产。结合文献分析总结此类患者妊娠受孕、妊娠及分娩过程中的临床特点。结论:45,X/46,XY混合性性腺发育不全女性患者无生育能力,可通过卵母细胞捐赠获得妊娠,但此类孕妇的妊娠并发症的发病率以及异常分娩率均高于普通人群。明确诊断,加强妊娠风险评估,以改善围产结局。Objective:To investigate the etiology,diagnosis and treatment of 45,X/46,XY mixed gonadal dysgenesis and the patients'clinical characteristics of conception,pregnancy and delivery,with purpose of improving the treatment and pregnancy management of the patients.Methods:We retrospectively analyzed the clinical data on a pregnant patient with45,X/46,XY mixed gonadal dysgenesis.Results:Based on the findings of hypoplasia of secondary sexual characteristics,streak gonads,chromosome karyotype incompatibility with social sex,and chromosome aberration in the gonadal tissue,the patient was diagnosed with 45,X/46,XY mixed gonadal dysgenesis,received oocyte donation and intracytoplasmic sperm injection-embryo transfer(ICSI-ET),and achieved a live birth.Conclusion:Female patients with 45,X/46,XY mixed gonadal dysgenesis are infertile,but can achieve pregnancy through oocyte donation.However,the incidence rates of pregnancy complications and abnormal delivery are higher in these patients than in normal females.The perinatal outcomes can be improved by efficient treatment and pregnancy management of the patients.

关 键 词：性腺发育不全 性染色体畸变 嵌合体 45 X/46 XY混合性性腺发育不全 卵母细胞捐赠 ICSI-ET 妊娠 

分 类 号：R596.1[医药卫生—内科学] R588[医药卫生—临床医学]