Skip to main content
Log in

Primary male infertility in Izmir/Turkey: a cytogenetic and molecular study of 187 infertile Turkish patients

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

Abstract

Purpose

To detect somatic cytogenetic abnormalities and AZF microdeletions in a sample of 187 Turkish infertile men to determine the frequencies and the characteristics of our primary male infertility data in order to perform appropriate genetic counseling.

Methods

This study included 187 infertile men. Chromosomal studies and screening of AZF deletions was performed by multiplex polymerase chain reaction (PCR) analysis using the Y Chromosome Deletion Detection System.

Results

Cytogenetic study revealed chromosomal abnormality in 9 subjects (4.8%). In remaining 178 subjects, 7 subjects (3.93%) were detected to have Y chromosome microdeletions. The AZFc region was the most frequently involved region in microdeletion process in affected subjects. All subjects having microdeletion were azoospermic

Conclusions

Cytogenetic and molecular study should be performed to obtain reliable genetic information for the genetic counseling of primary infertile man. Y chromosome microdeletion diagnosis is useful in decision making for assisted reproductive technics.

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

Access this article

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. Krausz C, Quintana-Murci L, McElreavey K. Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Human Reproduction. 2000;15:1431–4.

    Article  PubMed  CAS  Google Scholar 

  2. Vogt P, Chandley AC, Hargreave TB, Keil R, Ma K, Sharkey A. Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. Human Genetics. 1992;89:491–6.

    Article  PubMed  CAS  Google Scholar 

  3. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of art 2004. International Journal of Andrology. 2004;27:240–9.

    Article  PubMed  CAS  Google Scholar 

  4. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in yq11.1. Human Molecular Genetics. 1996;5:933–44.

    Article  PubMed  CAS  Google Scholar 

  5. Vogt PH. Genomic heterogeneity and instability of the AZF locus on the human Y chromosome. Molecular and Cellular Endocrinology. 2004;224:1–9.

    Article  PubMed  CAS  Google Scholar 

  6. Mitelman F. An international system for human cytogenetic nomenclature. Karger, Basel, Switzerland: ISCN; 1995.

    Google Scholar 

  7. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleatedcells. Nucleic Acids Research. 1988;16:1215–6.

    Article  PubMed  CAS  Google Scholar 

  8. (2003). Y chromosome deletion detection system, version 2.0.Technical Manual No. 248. USA, Promega Corporation.

  9. Tuerlings JH, de France HF, Hamers A, Hordijk R, Van Hemel JO, Hansson K, et al. Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. European Journal of Human Genetics. 1998;6:194–200.

    Article  PubMed  CAS  Google Scholar 

  10. Gunduz G, Luleci G, Baykara M. Cytogenetic study in 102 infertile men. Urologia Internationalis. 1998;6:32–4.

    Google Scholar 

  11. Kleiman SE, Yogev L, Gamzu R, Hauser R, Botchan A, Lessing JB, et al. Genetic evaluation of infertile men. Human Reproduction. 1999;14:33–8.

    Article  PubMed  CAS  Google Scholar 

  12. Rolf C, Gromoll J, Simoni M, et al. Natural transmission of a partial AZF b deletion of the Y chromosome over three generations. Human Reproduction. 2002;17:2267–71.

    Article  PubMed  CAS  Google Scholar 

  13. Foresta C, Moro E, Ferlin AY. Y chromosome microdeletions and alterations of spermatogenesis. Endocrine Reviews. 2001;22:226–39.

    Article  PubMed  CAS  Google Scholar 

  14. Duzcan F, Aybek Z, Tepeli E, Caner V, Cetin GO, Aybek H, et al. Sex chromosome aneuploidy rates in the somatic cells of infertile men. The Journal of Reproductive Medicine. 2006;51:489–92.

    PubMed  Google Scholar 

  15. Yamamoto Y, Sofikitis N, Mio Y, Loutradis D, Kaponis A, Miyagawa I. Morphometric and cytogenetic characteristics of testicular germ cells and Sertoli cell secretory function in men with non-mosaic Klinefelter’s syndrome. Human Reproduction. 2002;17:886–96.

    Article  PubMed  Google Scholar 

  16. Pina-Neto JM, Carrara RCV, Bisinella R, Mazzucatto LF, Martins MD, Sartoratto E, et al. Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men. Brazilian Journal of Medical and Biological Research. 2006;39(4):555–61.

    Article  PubMed  CAS  Google Scholar 

  17. Foresta C, Ferlin A, Garolla A, Rossato M, Barbaux S, De Bortoli A. Y chromosome deletions in idiopathic severe testiculopathies. The Journal of Clinical Endocrinology and Metabolism. 1997;82:1075–80.

    Article  PubMed  CAS  Google Scholar 

  18. Van der Ven K, Montag M, Peschka B, Leygraaf J, Schwanitz G, Haidl G, et al. Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection. Molecular Human Reproduction. 1997;3:699–704.

    Article  PubMed  Google Scholar 

  19. 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 Genetics. 2003;35:247–51.

    Article  PubMed  CAS  Google Scholar 

  20. Vogt PH, Fernandes S. Polymorphic DAZ gene family in polymorphic structure of AZFc locus: artwork or functional for human spermatogenesis? APMIS. 2003;111(1):115–26.

    Article  PubMed  CAS  Google Scholar 

  21. Fernandes S, Paracchini S, Meyer LH, Floridia G, Tyler-Smith C, Vogt PH. A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. American Journal of Human Genetics. 2004;74:180–7.

    Article  PubMed  CAS  Google Scholar 

  22. Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, et al. A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics. 2004;83(6):1046–52.

    Article  PubMed  CAS  Google Scholar 

  23. Okutman-Emonts O, Pehlivan S, Tavmergen E, Tavmergen-Goker EN, Ozkinay F. Screening of Y chromosome microdeletion which contains AZF regions in 71 Turkish azoospermic men. Genetic Counseling. 2004;15(2):199–205.

    PubMed  CAS  Google Scholar 

  24. Silber SJ, Repping S. Transmission of male infertility to future generations: lessons from the Y chromosome. Human Reproduction Update. 2002;8:217–29.

    Article  PubMed  Google Scholar 

  25. Patsalis PC, Sismani C, Quintana-Murci L, et al. Effects of transmission of Y chromosome AZF c deletions. Lancet. 2002;360:1222–4.

    Article  PubMed  CAS  Google Scholar 

  26. Rajender S, Rajani V, Gupta NJ, Chakravarty B, Singh L, Thangaraj K. SRY-negative 46, XX male with normal genitals, complete masculinization and infertility. Molecular Human Reproduction. 2006;12(5):341–6.

    Article  PubMed  CAS  Google Scholar 

  27. (2006). Report on optimal evaluation of the infertile male. Fertility and Sterility, 86, S202–S209.

  28. de Kretser DM, Burger HG. The Y chromosome and spermatogenesis. The New England Journal of Medicine. 1997;336:576–8.

    Article  PubMed  Google Scholar 

  29. Mitra A, Dada R, Kumar R, Gupta NP, Kucheria K, Gupta SK. Screening for Y-chromosome microdeletions in infertile Indian males: utility of simplified multiplex PCR. The Indian Journal of Medical Research. 2008;127(2):124–32.

    PubMed  CAS  Google Scholar 

  30. 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. Human Reproduction. 2003;18:1660–5.

    Article  PubMed  CAS  Google Scholar 

  31. Brandell RA, Mielnik A, Liotta D, Ye Z, Veeck LL, Palermo GD, et al. AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Human Reproduction. 1998;13:2812–5.

    PubMed  CAS  Google Scholar 

  32. McLachlan RI, O'Bryan MK. Clinical review: state of the art for genetic testing of infertile men. Clinics in Endocrinology and Metabolism. 2010;95(3):1013–24.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Haluk Akin.

Additional information

Capsule

Cytogenetic abnormalities and AZF microdeletions have been analyzed to determine the characteristics of regional primary male infertility data in order to perform appropriate genetic counseling.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Akin, H., Onay, H., Turker, E. et al. Primary male infertility in Izmir/Turkey: a cytogenetic and molecular study of 187 infertile Turkish patients. J Assist Reprod Genet 28, 419–423 (2011). https://doi.org/10.1007/s10815-011-9542-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-011-9542-8

Keywords

Navigation