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

Azoospermia factor region microdeletions were not detected in Slovenian men with IRSA. Our comparisons with previous studies show that Y chromosome microdeletions are most likely not associated with IRSA.

Nina Pereza, M.D., Ksenija Črnjar, M.D., Alena Buretić-Tomljanović, M.D., Ph.D., Marija Volk, M.D., Miljenko Kapović, M.D., Ph.D., Borut Peterlin, M.D., Ph.D., Saša Ostojić, M.D., Ph.D.

Volume 99, Issue 6, Pages 1663-1667, May 2013


To investigate the potential association of Y chromosome microdeletions with idiopathic recurrent spontaneous abortion (IRSA) in 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.

Case-control and association study.

Departments of gynecology and obstetrics and university-based research laboratory.

Male partners of 148 couples with at least three spontaneous pregnancy losses of unknown etiology and 148 fertile men.

Multiplex polymerase chain reactions.

Main Outcome Measures:
The azoospermia factor (AZF) regions were tested for Y chromosome microdeletions according to European Academy of Andrology/European Molecular Genetics Quality Network guidelines. PubMed database was searched to retrieve articles linking Y chromosome microdeletions and susceptibility to IRSA.

None of the IRSA or control men had microdeletions in the AZFa, AZFb, 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.

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.

  • The authors conclude that based on their study and their literature search, AZF microdeletion is not likely to cause multiple spontaneous miscarriages.

    Many problems with this study: First of all, men with AZF a or b or any combination containing a or b are going to be azoospermic and have not been reported to have sperm retrieved on MicroTESE. Second, the article does not address whether the 148 couples that had the spontaneous miscarriages prior to 28 weeks conceived spontaneously or via IVF/ICSI. Most men with AZF c microdeletions will have severe oligospermia or azoospermia. However, sperm can be found in many cases with MicroTESE. Third, it would be important to know what the sperm count/concentration was for these 148 men in these couples. If > 5 million, not likely to have genetic defect as cause of the infertility.

    So without even doing this study, we can already rule out AZF a or b or combination with a or b as a factor for spontaneous miscarriages.

    Unless the male partner has severe oligospermia or non obstructive azoospermia, genetic evaluation is not recommended.

    This article does a great job in stating the obvious.

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