45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction. Academic Article uri icon

Overview

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.

publication date

  • January 1, 2014

Identity

PubMed Central ID

  • PMC3926925

Scopus Document Identifier

  • 0037381282

Digital Object Identifier (DOI)

  • 10.1016/S0015-0282(02)04931-2

PubMed ID

  • 24554973

Additional Document Info

volume

  • 8

issue

  • 1-2