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

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


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.



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


  1. 1.
    Bhasin S, de Kretser DM, Baker HW: Clinical review 64: Pathophysiology and natural history of male infertility. J Clin Endocrinol Metab. 1994, 79: 1525-1529. 10.1210/jc.79.6.1525.CrossRefPubMedGoogle Scholar
  2. 2.
    Tiepolo L, Zuffardi O: Localisation of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet. 1976, 34: 119-124. 10.1007/BF00278879.CrossRefPubMedGoogle Scholar
  3. 3.
    Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Kohn FM, Schill WB, Farah S, Ramos C, Hartmann M, Hartschuh W, Meschede D, Behre HM, Castel A, Nieschlag E, Weidner W, Grone HJ, Jung A, Engel W, Haidl G: Human Y chromosome azoospermia factor (AZF) mapped to different subregions in Yq11. Hum Mol Genet. 1996, 5: 933-943. 10.1093/hmg/5.7.933.CrossRefPubMedGoogle Scholar
  4. 4.
    Luetjens CM, Gromoll J, Engelhardt M, Von Eckardstein S, Bergmann M, Nieschlag E, Simoni M: Manifestation of Y-chromosomal deletions in the human testis: a morphometrical and immunohistochemical evaluation. Hum Reprod. 2002, 17: 2258-2266. 10.1093/humrep/17.9.2258.CrossRefPubMedGoogle Scholar
  5. 5.
    Foresta C, Ferlin A, Garolla A, Moro E, Pistorello M, Barbaux S, Rossato M: High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. Hum Reprod. 1998, 13: 302-307. 10.1093/humrep/13.2.302.CrossRefPubMedGoogle Scholar
  6. 6.
    Foresta C, Moro E, Ferlin A: Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev. 2001, 22: 226-239. 10.1210/er.22.2.226.CrossRefPubMedGoogle Scholar
  7. 7.
    Palermo G, Joris H, Devroey P, Van Steirteghem AC: Pregnancies afterintracytoplasmic injection of single spermatozoon into an oocyte. Lancet. 1993, 340: 17-18. 10.1016/0140-6736(92)92425-F.CrossRefGoogle Scholar
  8. 8.
    Kent-First M, Muallem A: The incidence and possible relevance of Y-linked microdeletions in babies after intracytoplasmic sperm injection and theirinfertile fathers. Mol Hum Reprod. 1996, 2: 943-950.CrossRefGoogle Scholar
  9. 9.
    Seabright M: A rapid banding technique for human chromosomes. Lancet. 1971, 2: 971-972. 10.1016/S0140-6736(71)90287-X.CrossRefPubMedGoogle Scholar
  10. 10.
    Mitelman F: ISCN: An International System for Human Cytogenetic Nomenclature. 1995, Basel: S. KargerGoogle Scholar
  11. 11.
    Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O, et al: Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet. 1995, 10: 383-393. 10.1038/ng0895-383.CrossRefPubMedGoogle Scholar
  12. 12.
    Najmabadi H, Huang V, Yen P, Subbarao MN, Bhasin D, Banaag L, Naseeruddin S, de Kretser DM, Baker HW, McLachlan RI, et al: Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy. J Clin Endocrinol Metab. 1996, 81: 1347-1352. 10.1210/jc.81.4.1347.CrossRefPubMedGoogle Scholar
  13. 13.
    Foresta C, Ferlin A, Garolla A, Rossato M, Barbaux S, De Bortoli A: Y-chromosome deletions in idiopathic severe testiculopathies. J Clin Endocrinol Metab. 1997, 82: 1075-1080. 10.1210/jc.82.4.1075.CrossRefPubMedGoogle Scholar
  14. 14.
    Krausz C, Rajpert-De Meyts E, Frydelund-Larsen L, Quintana-Murci L, McElreavey K, Skakkebaek NE: Double-blind Y chromosome microdeletion analysis in men with known sperm parameters and reproductive hormone profiles: microdeletions are specific for spermatogenic failure. J Clin Endocrinol Metab. 2001, 86: 2638-2642. 10.1210/jc.86.6.2638.CrossRefPubMedGoogle Scholar
  15. 15.
    Maurer B, Gromoll J, Simoni M, Nieschlag E: Prevalence of Y chromosome microdeletions in infertile men who consulted a tertiary care medical centre: the Munster experience. Andrologia. 2001, 33: 27-33. 10.1046/j.1439-0272.2001.00406.x.CrossRefPubMedGoogle Scholar
  16. 16.
    van der Ven K, Montag M, Peschka B, Leygraaf J, Schwanitz G, Haidl G, Krebs D, van der Ven H: Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection. Mol Hum Reprod. 1997, 3: 699-704. 10.1093/molehr/3.8.699.CrossRefPubMedGoogle Scholar
  17. 17.
    Rao L, Babu A, Kanakavalli M, Padmalatha V, Singh A, Singh PK, Deenadayal M, Singh L: Chromosomal abnormalities and y chromosome microdeletions in infertile men with varicocele and idiopathic infertility of South Indian origin. J Androl. 2004, 25: 147-153.CrossRefGoogle Scholar
  18. 18.
    Krausz C, McElreavey K: Y chromosome microdeletions in 'fertile' males. Hum Reprod. 2001, 16: 1306-1307. 10.1093/humrep/16.6.1306.CrossRefPubMedGoogle Scholar
  19. 19.
    Calogero AE, Garofalo MR, Barone N, De Palma A, Vicari E, Romeo R, Tumino S, D'Agata R: Spontaneous regression over time of the germinal epithelium in a Y chromosome-microdeleted patient: Case report. Hum Reprod. 2001, 16: 1845-1848. 10.1093/humrep/16.9.1845.CrossRefPubMedGoogle Scholar
  20. 20.
    Ferlin A, Moro E, Rossi A, Dallapiccola B, Foresta C: The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet. 2003, 40: 18-24. 10.1136/jmg.40.1.18.CrossRefPubMedPubMedCentralGoogle Scholar
  21. 21.
    Brandell RA, Mielnik A, Liotta D, Ye Z, Veeck LL, Palermo GD, Schlegel PN: AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Hum Reprod. 1998, 13: 2812-2815.CrossRefGoogle Scholar
  22. 22.
    Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN: Detection of sperm in men with Y chromosome microdeletions of the AZFa,AZFb and AZFc regions. Hum Reprod. 2003, 18: 1660-1665. 10.1093/humrep/deg348.CrossRefPubMedGoogle Scholar
  23. 23.
    Kamp C, Huellen K, Fernandes S, Sousa M, Schlegel PN, Mielnik A, Kleiman S, Yavetz H, Krause W, Kupker W, Johannisson R, Schulze W, Weidner W, Barros A, Vogt PH: High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Mol Hum Reprod. 2001, 7: 987-994. 10.1093/molehr/7.10.987.CrossRefPubMedGoogle Scholar
  24. 24.
    Kleiman SE, Yogev L, Gamzu R, Hauser R, Botchan A, Paz G, Lessing JB, Yaron Y, Yavetz H: Three-generation evaluation of Y-chromosome microdeletion. J Androl. 1999, 20: 394-398.PubMedGoogle Scholar
  25. 25.
    Komori S, Kato H, Kobayashi S, Koyama K, Isojima S: Transmission of Y chromosomal microdeletions from father to son through intracytoplasmic sperm injection. J Hum Genet. 2002, 47: 465-468. 10.1007/s100380200066.CrossRefPubMedGoogle Scholar
  26. 26.
    Calogero AE, Garofalo MR, Barone N, Longo GA, De Palma A, Fichera M, Rappazzo G, D'Agata R, Vicari E: Spontaneous transmission from a fatherto his son of a Y chromosome microdeletion involving the deleted in azoospermia(DAZ) gene. J Endocrinol Invest. 2002, 25: 631-634.CrossRefGoogle Scholar
  27. 27.
    Kuhnert B, Gromoll J, Kostova E, Tschanter P, Luetjens CM, Simoni M, Nieschlag E: Case report: natural transmission of an AZFc Y-chromosomalmicrodeletion from father to his sons. Hum Reprod. 2004, 19: 886-888. 10.1093/humrep/deh186.CrossRefPubMedGoogle Scholar

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 (, 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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