[45,X/46,XY 混合性性腺发育不全患者通过卵母细胞捐赠实现活产：一例报告及文献综述]
[Live birth achieved by oocyte donation in a patient with 45,X/46,XY mixed gonadal dysgenesis: A case report and literature review].
作者信息
Zheng Lu, Ma Jin-Zhao, Xu Juan-Juan, Cui Ying-Xia, Yao Bing, Chen Li
机构信息
Center of Reproductive Medicine, Jinling Hospital Affiliated to Nanjing University School of Medicine / General Hospital of Eastern Theater Command, Nanjing, Jiangsu 210002, China.
出版信息
Zhonghua Nan Ke Xue. 2024 May;30(5):410-418.
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 with 45,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.
目的
探讨45,X/46,XY混合性性腺发育不全的病因、诊断、治疗方法以及患者受孕、妊娠和分娩的临床特征，以提高对该类患者的治疗及妊娠管理水平。
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。
结果
根据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以及性腺组织染色体畸变等表现，诊断为45,X/46,XY混合性性腺发育不全，患者接受卵母细胞捐赠及卵胞浆内单精子注射-胚胎移植（ICSI-ET）后成功分娩活婴。
结论
45,X/46,XY混合性性腺发育不全的女性患者不孕，但可通过卵母细胞捐赠实现妊娠。然而，这类患者妊娠并发症及异常分娩的发生率高于正常女性。对患者进行有效的治疗及妊娠管理可改善围产期结局。
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