Skip to main content
SpringerLink
Log in

Cytogenetic abnormalities detected in patients with non-obstructive azoospermia and severe oligozoospermia

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

Abstract

Purpose

To find the frequency and types of major chromosomal abnormalities with nonobstructive azoospermia and severe oligozoospermia to give appropriate genetic counseling before assisted reproduction techniques in Isparta (South of Turkey), and to investigate the general characteristics in this infertile male population.

Methods and patients

A total of 115 infertile males (92 were azoospermic, 23 severe oligospermic) were studied for the cytogenetic evaluation prior to use of assisted reproduction techniques. Also, 60 fertile males as a control group were studied. Karyotyping was performed on peripheral blood lymphocytes according to the standard methods. Levels of luteinising hormone, follicle-stimulating hormone (FSH), testosterone and prolactin were obtained and a testicular sonography examination was conducted.

Results

The total prevalence of chromosomal abnormalities was found to be 4.3% (5/115), including 4 patients with Klinefelter’s Syndrome and 1 patient with gonadal dysygenesis (46XX). All of them were azoospermic males, corresponding to a frequency of 5.4% (5/92 patients). Oligozoospermic males and control males had no chromosomal abnormalities. There was a significant difference in serum FSH, LH, mean testicular volume and smoking when comparing patients (both azoospermic and oligozoospermic) and control groups (p < 0.05). Also, there was a significant difference in serum FSH, LH and mean testicular volume when compared with azoospermic and oligozoospermic patients (p < 0.05)

Conclusions

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

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. de Kretser DM. Male infertility. Lancet. 1997;349:787–90.

    Article  PubMed  Google Scholar 

  2. Dohle GR, Halley DJ. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod. 2002;17(1):13–6.

    Article  CAS  PubMed  Google Scholar 

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

    CAS  PubMed  Google Scholar 

  4. Van Assche E, Bonduelle M. Cytogenetics of infertile men. Hum Reprod. 1996;4:1–24.

    Google Scholar 

  5. Koulischer L, Schoysman R. Chromosomes and human infertility. I. Mitotic and meiotic chromosome studies in 202 consecutive male patients. Clin Genet. 1974;5:116–26.

    Article  CAS  PubMed  Google Scholar 

  6. Chandley AC. Chromosomal basis of human infertility. Br Med Bull. 1979;35(18):1–186.

    Google Scholar 

  7. Palermo GD, Colombero TL. Chromosome analysis of epydidymal and testicular sperm in azoospermic patients undergoing ICSI. Hum Reprod. 2002;3:570–5.

    Article  Google Scholar 

  8. Bhasin S, DeKretser DM, Baker HWG. Clinical review 64, pathophysiology and natural history of male infertility. J Clin Endocrinol Metab. 1994;79:1525–9.

    Article  CAS  PubMed  Google Scholar 

  9. Cummins JM, Jequier AM. Treating male infertility needs more clinical andrology, not less. Hum Reprod. 1994;9:1214–9.

    CAS  PubMed  Google Scholar 

  10. World Health Organization. WHO laboratory manual for the examination of human semen and sperm-cervical mucus interaction. 4th ed. Cambridge: Cambridge University Pres; 1999.

    Google Scholar 

  11. Paltiel HJ, Diamond DA, Di Canzio J, Zurakowski D, Borer JG, Atala A. Testicular volume: comparison of orchidometer and US measurements in dogs. Radiology. 2002;222:114–9.

    Article  PubMed  Google Scholar 

  12. Barch MJ, Knutsen T, Spurbeck JL, editors. The AGT cytogenetics laboratory manual. 3rd ed. Philadelphia: Lippincott-Raven; 1997.

    Google Scholar 

  13. Sakamoto H, Yajima T, Nagata M, Okumura T, Suzuki K, Ogawa Y. Relationship between testicular size by ultrasonography and testicular function: measurement of testicular length, width, and depth in patients with infertility. Int J Urol. 2008;15:529–33.

    Article  PubMed  Google Scholar 

  14. Aribarg A, Kenkeerati W, Vorapaiboonsak V, Leepipatpaiboon S, Farley TM. Testicular volume, semen profile and serum hormone levels in infertile Thai males. Int J Androl. 1986;9:170–80.

    Article  CAS  PubMed  Google Scholar 

  15. Arai T, Kitahara S, Horiuchi S, Sumi S, Yoshida K. Relationship of testicular volume to semen profiles and serum hormone concentrations in infertile Japanese males. Int J Fertil. 1998;43:40–7.

    CAS  Google Scholar 

  16. Hassa H, Yildirim A, Can C, Turgut M, Tanir HM, Senses T, et al. Effect of smoking on semen parameters of men attending an infertility clinic. Clin Exp Obstet Gynecol. 2006;33(1):19–22.

    CAS  PubMed  Google Scholar 

  17. Martini AC, Molina RI, Estofán D, Senestrari D, FioldeCuneo M, Ruiz RD. Effects of alcohol and cigaretre consumption on human seminal quality. Fertil Steril. 2004;82(2):374–7.

    Article  PubMed  Google Scholar 

  18. Vutyavanich T, Piromlertamorn W, Sirirungsi W, Sirisukkasem S. Frequency of Y chromosome microdeletions and chromosomal abnormalities in infertile Thai men with oligozoospermia and azoospermia

  19. Abramsson L, Beckman G. Chromosomal aberrations and male infertility. J Urol l. 1982;128(1):52–3.

    CAS  Google Scholar 

  20. Kjessler B, Mancini RE, Martini L, editors. Male fertility and sterility. New York: Academic; 1974. p. 231–47.

    Google Scholar 

  21. Chiang HS, Wei HJ, Chen YT. Genetic screening for cases with azoospermia and severe oligo-asthenospermia. Int J Androl. 2000;23:20–5.

    Article  PubMed  Google Scholar 

  22. Lissitsina J, Mikelsaar R, Punab M. Cytogenetic analyses in infertile men. Arch Androl. 2006;52:91–5.

    Article  CAS  PubMed  Google Scholar 

  23. Basaran S, Engur A. The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses. Fetal Diagn Ther. 2004;19:313–8.

    Article  CAS  PubMed  Google Scholar 

  24. Bourrouillou G, Dastugue N, Colombies P. Chromosome studies in 952 males with a sperm count below 10 million/ml. Hum Genet. 1985;71:366–7.

    Article  CAS  PubMed  Google Scholar 

  25. Lee S, Kim NK. Genetic analysis of three polymorphic sites of the luteinizing hormone beta-subunit gene in infertile Korean men with nonobstructive azoospermia. Fertil Steril. 2003;79(3):517–21.

    Article  PubMed  Google Scholar 

  26. Retief AE, Van Zyl JA. Chromosome studies in 496 infertile males with a sperm count below 10 million/ml. Hum Genet. 1984;66:162–4.

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  29. Akgul 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  CAS  PubMed  Google Scholar 

  30. 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  CAS  PubMed  Google Scholar 

  31. Balkan M, Tekes S, Gedik A. Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey. J Assist Reprod Genet. 2008;25:559–65.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Medical Biology and Genetics, Süleyman Demirel University, School of Medicine, Isparta, Turkey

    Pınar Aslan Koşar & Nurten Özçelik

  2. Department of Urology, Süleyman Demirel University, School of Medicine, Isparta, Turkey

    Alim Koşar

Authors
  1. Pınar Aslan Koşar
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Nurten Özçelik
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Alim Koşar
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Pınar Aslan Koşar.

Additional information

Capsule

A select population of infertile azoospermic males was found to exhibit a high incidence of chromosomal abnormalities relative to oligospermic and control males warranting genetic screening for this group of patients.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Koşar, P.A., Özçelik, N. & Koşar, A. Cytogenetic abnormalities detected in patients with non-obstructive azoospermia and severe oligozoospermia. J Assist Reprod Genet 27, 17–21 (2010). https://doi.org/10.1007/s10815-009-9366-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-009-9366-y

Keywords

Search

Navigation