45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction


  • Ryan Kendrick Flannigan University of British Columbia
  • Victor Chow University of British Columbia
  • Sai Ma University of British Columbia
  • Albert Yuzpe University of British Columbia




Mixed Gonadal Dysgenesis, 45, X/46, XY, azoospermia, infertility


Infertility is common among couples, about one third of cases are the result of solely male factors, and rarely abnormalities of genetic karyotypes are the root cause. Individuals with a 45X,/46,XY mosaiscism are rare in the literature and very few have fertile potential. We discuss a case of a 27-year-old male with known mixed gonadal dysgenesis, 50:50 split mosaiscism of 45,X/46,XY, presenting for evaluation of 1.5 year history of infertility. He demonstrated low volume non-obstructive azoospermia. Upon testicular biopsy, spermatozoa were extracted. These sperm were subjected to aneuploidy studies demonstrating 95.95% euploidy. The sperm were further assessed and placed in cryopreservation after being deemed sufficient for potential intracytoplasmic sperm injection. This is a unique case of viable sperm in a man with mixed gonadal dysgenesis, 45,X/46,XY mosaiscism.


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Author Biographies

Ryan Kendrick Flannigan, University of British Columbia

MD, Department of Urological Sciences

Victor Chow, University of British Columbia

MD FRCSC, Department of Urological Sciences, Genesis Fertility Clinic

Sai Ma, University of British Columbia

PhD, Associate Profressor, Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology


Albert Yuzpe, University of British Columbia

MD, MSc FRCSC. Genesis Fertility Clinic, Department of Obstetrics and Gynecology




How to Cite

Flannigan, R. K., Chow, V., Ma, S., & Yuzpe, A. (2014). 45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction. Canadian Urological Association Journal, 8(1-2), e108–10. https://doi.org/10.5489/cuaj.1574



Case Report