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Y-Chromosome Microdeletions And Recurrent Pregnancy Loss

November 07, 2017

UroToday - Dewan and colleagues conducted a study which demonstrated that the prevalence of y-chromosome microdeletions was higher in patients(couples) undergoing evaluation for recurrent pregnancy loss (n=17) compared to 18 fertile couples without pregnancy loss and 10 infertile men.

Eighty-two (82%) percent of the men from the couples with recurrent pregnancy loss as compared to 0% in the normally fertile males and 20% in the infertile males were found to have microdeletions in the AZFc region of the Y chromosome.

Editorial comment: Firstly, it is important, as the authors note, that these are the results from a tertiary referral center and are unlikely to represent the true prevalence of y chromosome microdeletions in couples experiencing recurrent miscarriages.

That being said, this is an important observation. The concept that genetic causes of male infertility are limited to abnormalities of sperm production (quantitatively) and not to qualitative abnormalities are not tenable.

These findings do not only provide an explanation for recurrent miscarriage in a select population, but may have implications for couples utilizing testicular sperm acquisition and IVF/ICSI. This finding supports the "complete" genetic evaluation for patients entertaining the utilization of these technologies.

Sheri Dewan, Elizabeth E. Puscheck, Carolyn B. Coulam, Alexander J. Wilcox and Rajasingam S. Jeyendran

Fertility and Sterility, Volume 85, Issue 2, February 2006, Pages 441-445
Reviewed by UroToday Contributing Editor Harris M. Nagler, M.D., FACS

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