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Y chromosome microdeletions in infertile men with idiopathic oligo- or azoospermia

  • Ali Hellani
  • Saad Al-Hassan
  • Muhammed A Iqbal
  • Serdar Coskun
Open Access
Research

Abstract

About 30–40% of male infertility is due to unknown reasons. Genetic contributions to the disruption of spermatogenesis are suggested and amongst the genetic factors studied, Y chromosome microdeletions represent the most common one. Screening for microdeletions in AZFa, b and c region of Y chromosome showed a big variation among different studies. The purpose of this study was to investigate the prevalence of such deletions in Saudi men. A total of 257 patients with idiopathic oligo- or azoospermia were screened for Y chromosome microdeletions by 19 markers in AZF region. Ten (3.9%) patients had chromosomal rearrangements, six of them showed sex chromosome abnormalities and four patients had apparently balanced autosomal rearrengements. Eight of the remaining 247 patients (3.2%) with a normal karyotype and no known causes of impaired spermatogenesis had Y chromosome microdeletions. Among these, six patients had deletions in AZFc region, one case had a deletion in AZFb and another had both AZFa and AZFc deletions.

In conclusion, our study shows that Y chromosome microdeletions are low in our population. We also report for the first time a case with unique point deletions of AZFa and AZFc regions. The lower frequency of deletions in our study suggest that other genetic, epigenetic, nutritional and local factors may be responsible for idiopathic oligo- or azoospermia in the Saudi population.

Notes

Acknowledgements

This study is supported by a grant from King Abdel Aziz City of Science and Technology.

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Copyright information

© Hellani et al; licensee BioMed Central Ltd. 2006

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Authors and Affiliations

  • Ali Hellani
    • 1
  • Saad Al-Hassan
    • 2
  • Muhammed A Iqbal
    • 1
  • Serdar Coskun
    • 1
  1. 1.Department of Pathology and Laboratory MedicineKing Faisal Specialist Hospital and Research CenterRiyadhSaudi Arabia
  2. 2.Department of Obstetrics and GynecologyKing Faisal Specialist Hospital and Research CenterRiyadhSaudi Arabia

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