Open Access45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction
Author(s) -
Ryan Flannigan,
Victor Chow,
Sai Ma,
A. Albert Yuzpe
Publication year - 2014
Publication title -
canadian urological association journal
Language(s) - English
Resource type - Journals
eISSN - 1920-1214
pISSN - 1911-6470
DOI - 10.5489/cuaj.1574
Subject(s) - intracytoplasmic sperm injection , gonadal dysgenesis , sperm , infertility , azoospermia , male infertility , dysgenesis , testicular sperm extraction , andrology , biology , aneuploidy , gynecology , medicine , anatomy , genetics , pregnancy , chromosome , gene
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.