Skip to main content

Advertisement

SpringerLink
Log in

Chromosomal defects in infertile men with poor semen quality

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

To assess the incidence and the type of chromosomal aberrations in males with infertility we reviewed cytogenetic results in 76 Tunisian infertile men (54 nonobstructive azoospermia and 22 oligo-asthenospermia).

Methods

Karyotyping was performed on peripheral blood lymphocytes according to the standard methods. Molecular diagnosis of classical and partial Y-chromosomal microdeletions was performed by amplifying Y-specific STSs markers.

Results

Various numerical and structural chromosome abnormalities were identified in 15 patients (19.48%). The occurrence of chromosomal abnormality in the azoospermics and severe oligo-asthnospermic was 21.7% and 13.5%, respectively. The most common was Klinefelter syndrome, accounting for 10 of the 15 cytogenetic defects. The total frequency of Y chromosomal microdeletions was 17.1%, with respective frequencies in azoospermic and severe oligospermic groups, 11.1% and 31.8%. The most frequent of Y chromosomal deletions were the partial ones (11.1% in azoospermic and 27.2% in oligospermic).

Conclusion

The occurrence of chromosomal abnormalities among infertile males strongly suggests the need for routine genetic testing and counseling prior to the employment of assisted reproduction techniques.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Subscribe and save

Springer+ Basic
$34.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or eBook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Abdelmoula NB, Amouri A, Portnoi MF, Saad A, Boudawara T, Mhiri NM, Bahloul A, Rebai T. Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter’s syndrome. Annal Génét. 2004;47:163–75.

    Article  Google Scholar 

  2. Akgül M, Ozkinay F, Ercal D, Cogulu O, Dogan O, Altay B, et al. Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: report and review. J Assist Reprod Genet. 2009;26(2–3):119–22.

    Article  PubMed  Google Scholar 

  3. Ambasudhan R, Singh K, Agarwal JK, Singh SK, et al. Idiopathic cases of male infertility from a region in India show low incidence of Y-chromosome microdeletion. J Biosci. 2003;28:605–12.

    Article  PubMed  CAS  Google Scholar 

  4. Ceylan GG, Ceylan C, Elyas H. Genetic anomalies in patients with severe oligozoospermia and azoospermia in eastern Turkey: a prospective study. Genet Mol Res. 2009;8(3):915–22.

    Article  PubMed  CAS  Google Scholar 

  5. Ceylan C, Ceylan GG, Serel TA. The azoospermia factor locus -c region was found to be related to Klinefelter syndrome in Turkish patients. Gnet Mol Res. 2010;9(2):1229–33.

    Article  CAS  Google Scholar 

  6. Chandley A. Chromosome anomalies and Y chromosome microdeletions as casual factors in male infertility. Hum Reprod. 1998;13:45–50.

    Article  PubMed  CAS  Google Scholar 

  7. Choe JH, Kim JW, Lee JS, Seo JT. Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome. Asian J Androl. 2007;9:815–20.

    Article  PubMed  CAS  Google Scholar 

  8. Emery BR, Carrell DT. The effect of epigenetic sperm abnormalities on early embryogenesis. Asian J Androl. 2006;8:31–42.

    Article  Google Scholar 

  9. Ferlin A, Tessari A, Ganz F, Marchina E, Barlati S, Garolla A, Engl B, Foresta C. Association of partial AZFc region deletions with spermatogenic impairment and male infertility. J Med Genet. 2005;42:209–13.

    Article  PubMed  CAS  Google Scholar 

  10. Ferlin A, Arredi B, Foresta C. Genetic causes of male infertility. Reprod Toxicol. 2006;22:133–41.

    Article  PubMed  CAS  Google Scholar 

  11. Ferlin A, Raicu F, Gatta V, Zuccarello D, Palka G, Foresta C. Male infertility: role of genetic background. Reprod Biomed Online. 2007;14:734–45.

    Article  PubMed  CAS  Google Scholar 

  12. Fernando L, Gromoll J, Weerasooriya TR, Nieschlag E, Simoni M. Y-chromosomal microdeletions and partial deletions of the Azoospermia Factor c (AZFc) region in normozoospermic, severe oligozoospermic and azoospermic men in Sri Lanka. Asian J Androl. 2006;8(1):39–44.

    Article  PubMed  CAS  Google Scholar 

  13. 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(2):302–7.

    Article  PubMed  CAS  Google Scholar 

  14. Foresta C, Garolla A, Bartoloni L, Bettella A, Ferlin A. Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Clin Endocrinol Metab. 2005;90:152–6.

    Article  PubMed  CAS  Google Scholar 

  15. Fullerton G, Hamilton M, Maheshwari A. Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009? Hum Reprod. 2010;25:588–97.

    Article  PubMed  CAS  Google Scholar 

  16. Georgiou I, Syrrou M, Pardalidis N, Karakitsios K, Mantzavinos T, Giotitsas N, et al. Genetic and epigenetic risks of intracytoplasmic sperm injection method. Asian J Androl. 2006;8:643–73.

    Article  PubMed  Google Scholar 

  17. Giachini C, Guarducci E, Longepied G, Degl’Innocenti S, Becherini L, Forti G, Mitchell MJ, Krausz C. The gr/gr deletion(s): a new genetic test in male infertility? J Med Genet. 2005;42:497–502.

    Article  PubMed  CAS  Google Scholar 

  18. Haagerup A, Hertz JM. Pericentric inversion of chromosome 12; a three family study. Hum Genet. 1992;89(3):292–4.

    Article  PubMed  CAS  Google Scholar 

  19. Hadjkacem-Loukil L, Ghorbel M, Bahloul A, Ayadi H, Keskes-Ammar L. Genetic association between AZF region polymorphism and Klinefelter syndrome. Reprod Biomed Online. 2009;19:547–51.

    Article  PubMed  Google Scholar 

  20. Hucklenbroich K, Gromoll J, Heinrich M, Hohoff C, Nieschlag E, Simoni M. Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Hum Reprod. 2005;20(1):191–7.

    Article  PubMed  CAS  Google Scholar 

  21. Imken L, El Houate B, Chafik A, Nahili H, Boulouiz R, Abidi O, Chadli E, Louanjli N, Elfath A, Hassar M, McElreavey K, Barakat A, Rouba H. AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men. Asian J Androl. 2007;9(5):674–8.

    Article  PubMed  Google Scholar 

  22. O’Flynn O’Brien KL, Varghese AC, Agarwal A. The genetic causes of male factor infertility: a review. Fertil Steril. 2010;93(1):1–12.

    Article  Google Scholar 

  23. Larripa I, Mecucci C, Testoni N, Bosly A, Doyen C, Tytgat H, Van den Berghe H. Inversions of chromosome 12 in human malignancies. Cancer Genet Cytogenet. 1987;28(1):113–8.

    Article  PubMed  CAS  Google Scholar 

  24. Lee YS, Cheng AW, Ahmed SF, Shaw NJ, Hughes IA. Genital anomalies in Klinefelter’s syndrome. Horm Res. 2007;68:150–5.

    Article  PubMed  CAS  Google Scholar 

  25. Mitra A, Dada R, Kumar R, Gupta NP, et al. Y chromosome microdeletions in azoospermic patients with Klinefelter’s syndrome. Asian J Androl. 2006;8:81–8.

    Article  PubMed  CAS  Google Scholar 

  26. Mittal RD, Singh G, Srivastava A, Pradhan M, et al. Y chromosome micro-deletions in idiopathic infertility from Northern India. Ann Genet. 2004;47:331–7.

    Article  PubMed  Google Scholar 

  27. Nielsen J, Wohlert M. Chromosome abnormalities found among 34 910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991;87:81–3.

    Article  PubMed  CAS  Google Scholar 

  28. Oates RD, Silber S, Brown LG, et al. Clinical characterization of 42 oligospermic or azoospermic men with microdélétion of the AZFc region of the Y chromosome, and 18 children conceived via ICSI. Hum Reprod. 2002;17:2813–24.

    Article  PubMed  CAS  Google Scholar 

  29. Oliva R, Margarit E, Ballesca JL, et al. Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmic sperm injection. Fertil Steril. 1998;70:506–10.

    Article  PubMed  CAS  Google Scholar 

  30. Palermo GD, Colombero LT, Hariprashad JJ, Schlegel PN, Rosenwaks Z. Chromosome analysis of epididymal and testicular sperm in azoospermic patients undergoing ICSI. Hum Reprod. 2002;17:570–5.

    Article  PubMed  Google Scholar 

  31. Paulsen CA, Plymate SR. Klinefelter’s syndrome. In: King RA, Rotter JI, Motulsky AG, editors. The Genetic Basis of Common Diseases. Oxford, England: Oxford University Press; 1992. p. 876–94.

    Google Scholar 

  32. Pınar AK, Nurten Ö, Alim K. Cytogenetic abnormalities detected in patients with non-obstructive azoospermia and severe oligozoospermia. J Assist Reprod Genet. 2010;27:17–21.

    Article  Google Scholar 

  33. Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova T, et al. Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nature Genet. 2003;35:247–51.

    Article  PubMed  CAS  Google Scholar 

  34. Samli H, Samli MM, Solak M, Imirzalioglu N. Genetic anomalies detected in patients with non-obstructive azoospermia and oligozoospermia. Arch Androl. 2006;52:263–7.

    Article  PubMed  CAS  Google Scholar 

  35. Sato Y, Bohlander SK, Kobayashi H, Suto Y, Davis EM, Espinosa 3rd R, Le Beau MM, Rowley JD. Identification of pericentric inversion 12, inv(12)(p13.1q11), by fluorescence in situ hybridization in a patient with acute myeloid leukemia (AML-M6). Cancer Genet Cytogenet. 1997;97(2):157–60.

    Article  PubMed  CAS  Google Scholar 

  36. Silahtaroglu AN, Hacihanefioglu S, Guven GS, Cenani A, Wirth J, Tommerup N, Tumer Z. Not para-, not peri-, but centric inversion of chromosome 12. J Med Genet. 1998;35(8):682–4.

    Article  PubMed  CAS  Google Scholar 

  37. Tateno T, Sasagawa I, Ichiyanagi O, Ashida J, et al. Microdeletion of the DAZ (deleted in azoospermia) gene or the YRRM (Y chromosome ribonucleic acid recognition motif) gene does not occur in patients with Klinefelter’s syndrome with and without spermatogenesis. Fertil Steril. 1999;71:746–9.

    Article  PubMed  CAS  Google Scholar 

  38. Uehara S, Tanigawara S, Takeyama Y, Okamura K, Yajima A. A family with pericentric inversion of chromosome 12. Jpn J Hum Genet. 1994;39(1):201–4.

    Article  PubMed  CAS  Google Scholar 

  39. Van der Ven K, Montag M, Peschka B, et al. Combined cytogeneticand Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection. Mol Hum Reprod. 1997;3:699–704.

    Article  PubMed  Google Scholar 

  40. Vogt PH, Edelmann A, Kirsch S, et al. Human Y-chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet. 1996;5:933–43.

    Article  PubMed  CAS  Google Scholar 

  41. Voiculescu I, Barbi G, Wolff G, Steinbach P, Back E, Schempp W. Familial pericentric inversion of chromosome 12. Hum Genet. 1986;72(4):320–2.

    Article  PubMed  CAS  Google Scholar 

  42. World Health Organization. WHO laboratory manual for the examination of human semen and sperm-cervical interaction. 3rd ed. Cambridge, United Kingdom: Cambridge University Press; 1992.

    Google Scholar 

  43. Yatsenko AN, Yatsenko SA, Weedin JW, Lawrence AE, Patel A, Peacock S, Matzuk MM, Lamb DJ, Cheung SW, Lipshultz LI. Comprehensive 5-Year Study of Cytogenetic Aberrations in 668 Infertile Men. J Urology. 2010;183:1636–42.

    Article  Google Scholar 

Download references

Acknowledgments

We would like to thank everyone who helped in the completion of this project. We also thank the patients for their cooperation in the present study. This work was supported by The Tunisian Ministry of Higher Education, Scientific Research and Technology.

Author information

Authors and Affiliations

  1. Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia

    Myriam Ghorbel, Siwar Gargouri Baklouti, Fatma Ben Abdallah, Nacira Zribi, Mariem Cherif, Rim Keskes, Neila Belguith, Hassen Kamoun, Faiza Fakhfakh & Leila Ammar-Keskes

  2. Laboratory of Histology & Embryology, Faculty of Medicine, Sfax, Tunisia

    Nozha Chakroun & Afifa Sellami

Authors
  1. Myriam Ghorbel
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Siwar Gargouri Baklouti
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Fatma Ben Abdallah
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Nacira Zribi
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Mariem Cherif
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Rim Keskes
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Nozha Chakroun
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Afifa Sellami
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Neila Belguith
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Hassen Kamoun
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Faiza Fakhfakh
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Leila Ammar-Keskes
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Myriam Ghorbel.

Additional information

Capsule

Cytogenetic results have been reviewed in 76 Tunisian infertile men in order to assess the incidence and the type of chromosomal aberrations in male with infertility.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ghorbel, M., Gargouri Baklouti, S., Ben Abdallah, F. et al. Chromosomal defects in infertile men with poor semen quality. J Assist Reprod Genet 29, 451–456 (2012). https://doi.org/10.1007/s10815-012-9737-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-012-9737-7

Keyword

Search

Navigation