Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss

Published:September 26, 2008DOI:


      This study was undertaken to determine the prevalence of Y-chromosome microdeletions in couples with recurrent pregnancy loss (RPL) as compared with fertile couples.

      Study Design

      Forty-three men from couples with recurrent pregnancy loss, and 43 men from couples with a live birth and no history of miscarriages were recruited from Zekai Tahir Burak Woman Health, Education and Research Hospital. The DNA was tested for the presence of 4 sequence tagged sites (STSs) spanning 4 AZF regions: DYS220 (AZFb), DYS235, DYS236, and DYS237 (AZFd).


      Seven (7) of the 43 men (16%) from couples with recurrent pregnancy loss had microdeletions in 1 or more of the 4 segments studied, whereas none of the fertile men had any microdeletions (P < .05). Their microdeletions were all found specifically at locus DYS 220 (AZFb).


      The prevalence of the Y chromosome microdeletion in AZF region was much higher in men from couples with recurrent pregnancy loss than men in fertile couples. This study showed that Y chromosome microdeletion in AZF region may be a possible etiologic factor of recurrent pregnancy loss.

      Key words

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      Linked Article

      • Are Y chromosome microdeletions and recurrent pregnancy loss really associated?
        American Journal of Obstetrics & GynecologyVol. 201Issue 5
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          We read with great interest the article by Karaer et al,1 because Y chromosome microdeletions (YMD) and recurrent pregnancy loss (RPL) represent an interesting and poorly studied association. However, we found some weaknesses that need to be clarified: first, they used 4 sequence tagged sites (STS): 1 for the AZFb region (DYS220 [sY129]) and 3 for the AZFd region (DYS235 [sY150], DYS236 [sY152], DYS237 [sY153]). AZFd zone was proposed in 1999, but confirmed evidence shows absence of this fourth zone, and all STS referred to as AZFd used in this study correspond to AZFc zone.
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        American Journal of Obstetrics & GynecologyVol. 201Issue 5
        • Preview
          We have evaluated the valuable comments of R.E. Pıña-Aguılar, MD, S.G. Martínez-Garza, PhD, and A.M. Gutıérrez-Gutıérrez, MD, PhD, about our article.
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