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
郑露 1马金召 1许娟娟 1崔英霞 1姚兵 1陈莉1
作者信息
- 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
- 折叠
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.
Abstract
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 manage-ment 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 o-ocyte donation.However,the incidence rates of pregnancy complications and abnormal delivery are higher in these patients than in nor-mal 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Key words
gonadal dysgenesis/sex chromosome aberrations/chimera/45,X/46,XY mixed gonadal dysgenesis/oocyte dona-tion/intracytoplasmic sperm injection-embryo transfer/pregnancy引用本文复制引用
基金项目
国家自然科学基金面上项目(81973965)
出版年
2024
NETL
NSTL
万方数据