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.