Journal of Reproduction & Infertility

Journal of Reproduction & Infertility

Chromosomal Abnormalities in Infertile Men Referred to Iran Blood Transfusion Organization Research Center

Authors
Frouzandeh Mahjoubi 1
Saeideh Soleimani 2
Sanaz Mantegy 3
1 National Research Institute for Genetic Engineering and Biotechnology, Tehran, Iran; Department of Cytogenetics, Iran Blood Transfusion Organization Research Center (IBTO), Tehran, Iran
2 Department of Cytogenetics, Iran Blood Transfusion Organization Research Center (IBTO), Tehran, Iran
3 National Research Institute for Genetic Engineering and Biotechnology, Tehran, Iran
Abstract
Introduction: The prevalence of somatic chromosomal abnormalities in infertile male individuals has been reported to vary in different literatures. The aim of this study was to investigate the frequency of chromosomal aberrations among infertile men referred to the Cytogenetic Laboratory of Iran Blood Transfusion Organization Research Centre (IBTO). Materials and Methods: Chromosomal analysis was performed on phytohemagglutinin (PHA)-stimulated peripheral lymphocyte cultures of 1052 infertile men using standard cytogenetic methods. The study took place during 1997 to 2007. Results: Total chromosome alterations were revealed in 161 (15.30%) infertile men. The most prevalent chromosomal abnormality in the infertile men was 47, XXY, that was seen in 94 (58.38%) men while one of them had a mosaic karyotype: mos 47, XX[54]/47,XXY[18]/46,XY[9]. In 37 (22.98%) cases, structural aberrations were detected. There were 30 (18.63%) cases of sex reversal. Conclusion: Cytogenetic studies of these patients showed increased chromosomal abnormalities in infertile men in comparison with that of the normal population, justifying the need for cytogenetic analysis of men with idiopathic infertility.
Keywords
Chromosomal abnormalities
Cytogenetic
Infertility
Klinefelter’s syndrome
Male infertility
Sex reversal
  1. de Kretser DM. Male infertility. Lancet. 1997;349 (9054):787-90.
  2. Retief AE, Van Zyl JA, Menkveld R, Fox MF, Kotze GM, Brusnicky J. Chromosome studies in 496 infertile males with a sperm count below 10 million/ml. Hum Genet. 1984;66(2-3):162-4.
  3. Pandiyan N, Jequier AM. Mitotic chromosomal anomalies among 1210 infertile men. Hum Reprod. 1996;11(12):2604-8.
  4. Gosden CM, Davidson C, Robertson M. Lymphocyte culture. In: Rooney DE, Czepulkowski BH, editors. Human Cytogenetics: A Practical Approach. Oxford, United Kingdom: IRL Press Ltd; 1992. p. 31-54.
  5. Benn PA, Perle MA. Chromosome staining and banding techniques. In: Rooney DE, Czepulkowski BH, editors. Human Cytogenetics: A Practical Approach. Oxford, United Kingdom: IRL Press Ltd; 1992. p. 91-118.
  6. 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. Eur J Hum Genet. 1998;6(3):194-200.
  7. Mau UA, Bäckert IT, Kaiser P, Kiesel L. Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection. Hum Reprod. 1997;12(5):930-7.
  8. Peschka B, Leygraaf J, Van der Ven K, Montag M, Schartmann B, Schubert R, et al. Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. Hum Reprod. 1999;14(9):2257-63.
  9. Zhou H, Zhu JW, Li HG, Tang YP. [Genetic defect in Chinese azoospermic patients and their relationship with reproductive hormones]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009;26(4):427-30. Chinese.
  10. Ng PP, Tang MH, Lau ET, Ng LK, Ng EH, Tam PC, et al. Chromosomal anomalies and Y microdeletions among Chinese subfertile men in Hong Kong. Hong Kong Med J. 2009;15(1):31-8.
  11. 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.
  12. Gündüz G, Lüleci G, Baykara M. Cytogenetic study in 102 infertile men. Urol Int. 1998;61(1):32-4.
  13. Tachdjian G, Frydman N, Morichon-Delvallez N, Dû AL, Fanchin R, Vekemans M, et al. Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review. Hum Reprod. 2003;18(2):271-5.
  14. Nagvenkar P, Desai K, Hinduja I, Zaveri K. Chromosomal studies in infertile men with oligozoospermia & non-obstructive azoospermia. Indian J Med Res. 2005;122(1):34-42.
  15. Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, et al. Cytogenetics of infertile men. Hum Reprod. 1996;11 Suppl 4:1-24; discussion 25-6.
Journal of Reproduction & Infertility
Volume 11, Issue 3
Autumn 2010
Pages 175-178