title: 45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction.
abstract: 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.
authors.affiliation: Department of Urological Sciences, University of British Columbia, Vancouver, BC;
authors.forename: Ryan Kendrick
authors.initials: RK
authors.lastname: Flannigan
authors.affiliation: Department of Obstetrics and Gynecology, Department of Urological Sciences, Genesis Fertility Clinic, University of British Columbia, Vancouver, BC;
authors.forename: Victor
authors.initials: V
authors.lastname: Chow
authors.affiliation: Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of British Columbia, Vancouver, BC.
authors.forename: Sai
authors.initials: S
authors.lastname: Ma
authors.affiliation: Department of Obstetrics and Gynecology, Department of Urological Sciences, Genesis Fertility Clinic, University of British Columbia, Vancouver, BC;
authors.forename: Albert
authors.initials: A
authors.lastname: Yuzpe