A rare viable delivery of a 45,X/46,XY mosaicism female with complete gonadal dysgenesis after receiving oocyte donation and overcoming multiple pregnancy complications

PurposeReporting a rare viable delivery of a 45,X/46,XY mosaicism female with complete gonadal dysgenesis (CGD) after receiving hormone replacement therapy (HRT), oocyte donation, and overcoming multiple pregnancy complications.MethodsAn infertile female presenting with primary amenorrhea was recruited. Comprehensive genetic evaluation including SRY and AZF gene testing, chromosome karyotyping, fluorescence in situ hybridization (FISH), CNV-seq, and whole-exome sequencing (WES) was performed. This patient was treated with HRT and oocyte donation and received appropriate treatment during pregnancy.ResultsThe patient showed a hypoplastic uterus and absent bilateral ovaries via ultrasound detection. She was identified to be a 45,X/46,XY mosaicism through CNV-seq analysis of peripheral blood, saliva, urine, and buccal cells. And further gonadal pathology further confirmed a diagnosis of CGD. Following successful management of multiple pregnancy complications, she delivered a healthy full-term infant.ConclusionsThis is the second case around the world and the first case in China of 45,X/46,XY mosaic female with CGD who experienced a successful pregnancy via occytes donation.And we provided a detailed examination and treatment process for a series of complications in this case, especially the management of threatened miscarriages and preterm labour.