Y chromosome azoospermia factor region microdeletions are not associated with idiopathic recurrent spontaneous abortion in a Slovenian population: association study and literature review.

Objective: To investigate the potential association of Y chromosome microdeletions with idiopathic recurrent spontaneous abortion (IRSA) in a Slovenian population and compare our results with those of previously published studies in different populations, with the intention of clarifying the potential impact of Y chromosome microdeletions on IRSA.
Design: Case-control and association study.
Setting: Departments of gynecology and obstetrics and university-based research laboratory.
Patient(s): Male partners of 148 couples with at least three spontaneous pregnancy losses of unknown etiology, and 148 fertile men.
Intervention(s): Multiplex polymerase chain reactions.
Main Outcome Measure(s): Azoospermia factor (AZF) regions were tested for Y chromosome microdeletions according to European Academy of Andrology/European Molecular Genetics Quality Network guidelines. The PubMed database was searched to retrieve articles linking Y chromosome microdeletions and susceptibility to IRSA.
Result(s): None of the IRSA or control men had microdeletions in the AZFa, AZFb, or AZFc regions. A total of nine previous studies examined the relationship between Y chromosome microdeletions and IRSA, yielding contradictory results, which we discuss in detail.
Conclusion(s): On the basis of our comparisons, it is unlikely that Y chromosome microdeletions contribute to IRSA and are therefore currently not recommended for the routine evaluation of IRSA couples.
(Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)