Live birth achieved by oocyte donation in a patient with 45,X/46,XY mixed gonadal dysgenesis:A case report and literature review
ZHENG Lu
MA Jin-zhao
XU Juan-juan
CUI Ying-xia
YAO Bing
CHEN Li
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.
Keywords：gonadal dysgenesissex chromosome aberrationschimera45X/46XY mixed gonadal dysgenesisoocyte dona-tionintracytoplasmic sperm injection-embryo transferpregnancy
Publication Date：2024-05-20
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：9( 410-418 )