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Prevalence of Y microdeletions in azoospermic and severe oligozoospermic men in Southern Italy: Application of a rapid capillary electrophoresis method

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Abstract

Male infertility is correlated with several genetic and non-genetic conditions. Microdeletions of Y chromosome are one of the most frequent genetic defects associated with male infertility. Evaluating this in infertile patients is important to assess an etiological diagnosis and possible prognosis of infertility, as well as to address clinical decision during treatment of infertility by intracytoplasmatic sperm injection, where the probability of success depends on the type and the number of deleted regions (azoospermia factor regions). To improve genetic counseling, it is useful to characterize Yq regions by a rapid and accurate method. In the current study, we evaluated the diagnostic efficiency and the time required of an in-house automated capillary electrophoresis method for Y microdeletions screening and applied it to estimate the prevalence of Y microdeletions in 100 infertile males affected by azoospermia or severe oligozoospermia (sperm count <5×106/ml) and in 100 fertile male controls. In south Italian infertile men, the overall frequency of Y microdeletions was 9% (12.7% in azoospermic and 4.5% in severe oligozoospermic men). In conclusion, we think that the abovementioned procedure is suitable for the routine characterization of Y microdeletions.

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Authors and Affiliations

  1. Department of Biochemistry and Medical Biotechnology, CEINGE Advanced Biotechnology, via S. Pansini 5, 80131, Napoli, Italy

    O. Fattoruso, I. Coto & L. Sacchetti PhD

  2. Department of Endocrinology and Molecular and Clinical Oncology, University of Naples “Federico II”, Naples, Italy

    S. Zarrilli, M. De Rosa & G. Lombardi

Authors
  1. O. Fattoruso
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  2. S. Zarrilli
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  3. I. Coto
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  4. M. De Rosa
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  5. G. Lombardi
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  6. L. Sacchetti PhD
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Corresponding author

Correspondence to L. Sacchetti PhD.

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Fattoruso, O., Zarrilli, S., Coto, I. et al. Prevalence of Y microdeletions in azoospermic and severe oligozoospermic men in Southern Italy: Application of a rapid capillary electrophoresis method. J Endocrinol Invest 32, 223–227 (2009). https://doi.org/10.1007/BF03346456

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  • DOI: https://doi.org/10.1007/BF03346456

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