45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction
Keywords: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.
How to Cite
You, the Author(s), assign your copyright in and to the Article to the Canadian Urological Association. This means that you may not, without the prior written permission of the CUA:
- Post the Article on any Web site
- Translate or authorize a translation of the Article
- Copy or otherwise reproduce the Article, in any format, beyond what is permitted under Canadian copyright law, or authorize others to do so
- Copy or otherwise reproduce portions of the Article, including tables and figures, beyond what is permitted under Canadian copyright law, or authorize others to do so.
The CUA encourages use for non-commercial educational purposes and will not unreasonably deny any such permission request.
You retain your moral rights in and to the Article. This means that the CUA may not assert its copyright in such a way that would negatively reflect on your reputation or your right to be associated with the Article.
The CUA also requires you to warrant the following:
- That you are the Author(s) and sole owner(s), that the Article is original and unpublished and that you have not previously assigned copyright or granted a licence to any other third party;
- That all individuals who have made a substantive contribution to the article are acknowledged;
- That the Article does not infringe any proprietary right of any third party and that you have received the permissions necessary to include the work of others in the Article; and
- That the Article does not libel or violate the privacy rights of any third party.