• Yu Zhang, Zheng Liu, Jian Ou, Ling-Xiao Zhang, Wei-Ying Lu, Qi Li, and Yanlin Ma.
• Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research.
• Medicine (Baltimore). 2020 Oct 2; 99 (40): e22223.

RationaleMixed gonadal dysgenesis is a rare disorder of sex development, and typically contains a mosaic 45,X/46,XY karyotype.Patient ConcernsWe reported here a case of a 42-year-old man with infertility for 6 years and inability to ejaculate during intercourse.DiagnosisPhysical examination confirmed that the external genitalia was male. The right testis of this patient was resected and the left testis had intrascrotal calcification. Hormone test showed that the level of follicle-stimulating hormone was 20.14 IU/L (normal range, 1.27-19.26 IU/L). No deletion or mutation was found on the sex-determining region Y. H&E staining revealed seminiferous tubule dysgenesis. The karyotyping in peripheral blood and testicular tissue was 45,X/46,XY and 45,X/47,XYY/46,XY, respectively. Based on these results, the patient was diagnosed with 45,X/46,XY or 45,X/47,XYY/46,XY mosaicism and gonadal dysgenesis.InterventionsIn vitro fertilization and embryo transfer technology were used to help his wife to achieve pregnancy.OutcomesA normal baby boy was born at 36 weeks of gestation with a karyotype 46, XY.LessonsWe reported a rare case of a karyotype 45,X/46,XY in blood cells and 45,X/47, XYY/46,XY in testicular tissue. In vitro fertilization and embryo transfer technology can help to achieve pregnancy.

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