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Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss

Published:September 26, 2008DOI:https://doi.org/10.1016/j.ajog.2008.06.013

      Objective

      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).

      Results

      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).

      Conclusion

      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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      References

        • Sitrat G.M.
        Recurrent miscarriage I: definition and epidemiology.
        Lancet. 1990; 336: 673-675
        • Li T.C.
        • Makris M.
        • Tomsu M.
        • Tuckerman E.
        • Laird S.
        Recurrent miscarriage: etiology, management and prognosis.
        Hum Reprod Uptake. 2002; 8: 463-481
        • Janny L.
        • Menezo Y.J.
        Evidence for a strong parenteral effect on human periimplantation embryo development and blastocyst formation.
        Mol Reprod Dev. 1994; 38: 36-42
        • Moomjay M.
        • Colombero L.T.
        • Veeck L.L.
        • Rosenwaks Z.
        • Palermo G.D.
        Sperm integrity is critical for normal mitotic division and early embryonic development.
        Mol Hum Reprod. 1999; 5: 836-844
        • Check J.H.
        • Katsoff D.
        • Check M.L.
        Some semen abnormalities may cause infertility by impairing implantation rather than fertilization.
        Med Hypotheses. 2001; 56: 653-657
        • Egozcue S.
        • Blanco J.
        • Vendrell J.M.
        • Garcia F.
        • Veiga A.
        • Aran B.
        • et al.
        Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion.
        Hum Reprod Uptake. 2000; 6: 93-105
        • Tiepolo L.
        • Zuffardi O.
        Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm.
        Hum Genet. 1976; 34: 119-124
        • Vogt P.H.
        • Edelmann A.
        • Kirsch S.
        • et al.
        Human Y chromosome azospermia factors (AZF) mapped to different subregions in Yq11.
        Hum Mol Genet. 1996; 5: 933-943
        • Kent-First M.
        • Muallem A.
        • Shultz J.
        • et al.
        Defining regions of the Y chromosome responsible for male infertility and identification of fourth AZF region (AZFd) by Y-chromosome microdeletion detection.
        Mol Reprod Dev. 1999; 53: 27-41
        • Dewan S.
        • Puscheck E.E.
        • Coulam C.B.
        • Wilcox A.J.
        • Jeyendran R.S.
        Y-chromosome microdeletions and recurrent pregnancy loss.
        Fertil Steril. 2006; 85: 441-445
        • Kruger T.F.
        • DuToit T.C.
        • Franken D.R.
        • et al.
        Predictive value of abnormal sperm morphology in invitro fertilization.
        Fertil Steril. 1988; 49: 112-117
        • Daya S.
        Evidence based management of recurrent miscarriage: optimal diagnostic protocol.
        International Congress Series. 2004; 1266: 318-327
        • Hill J.A.
        • Abbott A.F.
        • Politch A.
        Sperm morphology and recurrent abortion.
        Fertil Steril. 1994; 61: 776-778
        • Carell D.T.
        • Wilcox A.L.
        • Lowy L.
        • et al.
        Elevated sperm aneuploidy and apoptosis in patients with unexplained recurrent pregnancy loss.
        Obstet Gynecol. 2003; 101: 1229-1235
        • Sinclair A.H.
        • Berta P.
        • Palmer M.S.
        • et al.
        A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif.
        Nature. 1990; 346: 240-244
        • Foresta C.
        • Moro E.
        • Ferlin A.
        Y chromosome microdeletions and alterations of spermatogenesis.
        Endocrine Rev. 2005; 22: 226-229
        • Perrin J.
        • Metzler-Guillemain C.
        • Karsenty G.
        • Grillo J.M.
        • Mitchell Mj
        • Guichaoua M.R.
        Meiotic arrest at the midpachytene stage in a patient with complete azospermiz factor b deletion of the Y chromosome.
        Fertil Steril. 2006; 85: 494.e5-494.e8
        • Geoffroy-Siraudin C.
        • Aknin-Seiffer I.
        • Metzler-Guillemain C.
        • et al.
        Meiotic abnormalities in patients bearing complete AZFc deletion of Y chromosome.
        Hum Reprod. 2007; 22: 1567-1572
        • Guichaoua M.R.
        • Perin J.
        • Metzler-Guillemain C.
        • Saias-Magnan J.
        • Giorgi R.
        • Grillo J.M.
        Meiotic anomalies in infertile men with severe spermatogenic defects.
        Hum Reprod. 2005; 20: 1897-1902
        • Simoni M.
        Molecular diagnosis of Y chromosome microdeletions in Europe: state-of-the-art and quality control.
        Hum Reprod. 2001; 16: 402-409

      Linked Article

      • Are Y chromosome microdeletions and recurrent pregnancy loss really associated?
        American Journal of Obstetrics & GynecologyVol. 201Issue 5
        • Preview
          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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      • Reply
        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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