OJGen  Vol.3 No.2 C , August 2013
Cytogenetic abnormalities in 200 male infertile cases in the southern region of India
Chromosomal abnormalities are one of the major causes of male infertility. But the exact mechanism by which chromosomal anomalies induces infertility is still not clear. Many studies have documented the chromosomal abnormalities ranging from 2.2% to 15.7% in infertile men. The present study has been carried out to document and find out the genetic cause of male infertility in the Southern region of India. The cytogenetic analysis of 200 male infertile cases, referred due to primary infertility from 2009 to 2012, were analyzed by GTG banding and evaluated retrospectively. The semen analysis was also performed. A total of 15 cases (7.5%) showed chromosomal aberrations. Four (2%) were 47, XXY and mosaic 47,XXY; Two (1%) were structural autosomal abnormalities; Two (1%) were inversion Y; Seven (3.5%) cases were Y heterochromatin variants and 185 cases (92.5%) showed normal 46,XY karyotype. The chromosomal abnormalities in our study is also in agreement with the data from the literature. Also abnormal spermatogenesis is observed in these cases. Apart from chromosomal analysis further in depth molecular analysis and genetic counseling is suggestive in such cases, especially those interested in IVF technologies.

Cite this paper
Sreenivasa, G. , Malini, S. , Kumari, P. and Dutta, U. (2013) Cytogenetic abnormalities in 200 male infertile cases in the southern region of India. Open Journal of Genetics, 3, 33-37. doi: 10.4236/ojgen.2013.32A3005.
[1]   WHO (2000) WHO manual for the standardized investigation and diagnosis of the infertile couple. Cambridge University Press, Cambridge.

[2]   Dada, R. and Gupta, N.C. (2004) Yq microdeletions-Azoospermia factor candidate genes and spermatogenetic arrest. Journal of Biomolecular Techniques, 15, 176-183.

[3]   Maduro, M.R. and Lamb, D.J. (2002) Understanding new genetics of male infertility. Journal of Urology, 68, 2197-2205.

[4]   Retief, A.E., Van Zyl, J.A., Menkveld, R., Fox, M.R., Kotze, G.M. and Brusnicky, J. (1984) Chromosome studies in 496 infertile males with a sperm count below 10 million/ml. Human Genetics, 66, 162-164. doi:10.1007/BF00286592

[5]   Ravel, C., Berthaut, I., Bresson, J.L. and Siffroi, J.P. (2006) Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: Large-scale survey of over 10000 sperm donor karyotypes. Human Reproduction, 21, 1484-1489. doi:10.1093/humrep/del024

[6]   Penna, V.S., Araujo, H., Ballesta, F., Ballesca, J.L. and Vanrell, J.A. (2001) Chromosomal abnormalities and polymorphisms in infertile men. Archives of Andrology, 46, 205-210. doi:10.1080/01485010151096504

[7]   Patsalis, P.C., Sismani, C., Quintana-Murci, L., Taleb-Bek-kouche, F., Krausz, C. and McElreavey, K. (2002) Effects of transmission of Y chromosome AZFc deletions. The Lancet, 360, 1222-1224. doi:10.1016/S0140-6736(02)11248-7

[8]   Siffroi, J.P., Le Bourhis, C., Krausz, C., Barbaux, S., Quintana-Murci, L. and Kanafani, S. (2005) Sex chromosome mosacism in males carrying Y chromosome long arm deletions. Human Reproduction, 15, 2559-2562. doi:10.1093/humrep/15.12.2559

[9]   Visootsak, J., Aylstock, M. and Graham, J.M. (2001) Klinefelter syndrome and its variants: An update and review for the primary pediatrician. Clinical Pediatrics, 40, 639-651. doi:10.1177/000992280104001201

[10]   Huynh, T., Mollard, R. and Trounson, A. (2002) Selected genetic factors associated with male infertility. Human Reproduction, 8, 183-198. doi:10.1093/humupd/8.2.183

[11]   Zhou, H., Zhu, J.W., Li, H.G. and Tang, Y.P. (2009) Genetic defect in Chinese azoospermic patients and their relationship with reproductive hormones. Chinese Journal of Medical Genetics, 26, 427-430.

[12]   Yoshida, A., Miura, K. and Shirai, M. (1996) Chromosome abnormalities and male infertility. Assisted Reproduction Reviews, 6, 93-100.

[13]   Baccetti, B., Capitani, S., Collodel, G., Di Cairano, G., Gambera, L., Moretti, E. and Piomboni. P. (2001) Genetic sperm defects and consanguinity. Human Reproduction, 16, 1365-1371.

[14]   World Health Organization (1999) Laboratory manual for the examination of human semen and sperm-cervical mucus interaction. Cambridge University Press, New York.

[15]   Moorhead, P.S., Nowell, P.C. and Mellman, W.J. (1960) Chromosome preparations of leukocytes cultured from human peripheral blood. Experimental Cell Research, 20, 613-616. doi:10.1016/0014-4827(60)90138-5

[16]   Seabright, M. (1971) A rapid banding technique for human chromosomes. Lancet, 2, 971-972. doi:10.1016/S0140-6736(71)90287-X

[17]   ISCN (2009) An international system for human cytogenetic nomenclature.

[18]   Azimi, C., Khaleghian, M. and Farzanfar, F. (2012) Cytogenetic studies among Iranian infertile men: The first 20-year long-term report. African Journal of Biotechnology, 11, 8973-8978.

[19]   Lahn, B.T., Pearson, N.M. and Jegalian, K. (2001) The human Y chromosome, in the light of evolution. Nature Reviews Genetics, 2, 207-216. doi:10.1038/35056058

[20]   Charlesworth, D., Charlesworth, B. and Marais, G. (2005) Steps in the evolution of heteromorphic sex chromosomes. Heredity, 95, 118-128. doi:10.1038/sj.hdy.6800697

[21]   VanAssche, E., Bonduelle. M., Tournaye, H., Joris, H., Verheyen, G., Devroey, P, Van Steirteghem, A. and Liebaers, I. (1996) Cytogenetics of infertile men. Human Reproduction, 11, 1-26. doi:10.1093/humrep/11.suppl_4.1

[22]   Pandiyan, N. and Jequier, A.M. (1996) Mitotic chromosomal anomalies among 1210 infertile men. Human Reproduction, 11, 2604-2608. doi:10.1093/oxfordjournals.humrep.a019178

[23]   El-Dahtory, F. and Elsheikha, H.M. (2009) Male infertility related to an aberrant karyotype, 47, XYY: Four case reports. Cases Journal, 2, 28. doi:10.1186/1757-1626-2-28

[24]   Yoshida, A., Nakahori, Y., Kuroki, Y., Motoyama, M., Araki, Y., Miura, K., et al. (1997) Dicentric Y chromosome in an azoospermic male. Molecular Human Reproduction, 3, 709-712. doi:10.1093/molehr/3.8.709

[25]   Paulina, P.Y., Mary, H.Y., Elizabeth, T., Lucy, K.L., Ernest, H.Y., William, S.B. and Yeung, P.C. (2009) Chromosomal anomalies and Y-microdeletions among Chinese subfertile men in Hong Kong. Hong Kong Medical Journal, 15, 31-38.

[26]   Ceylan, G.G., Ceylan, C. and Elyas, H. (2009) Genetic anomalies in patients with severe oligozoospermia and azoospermia in eastern Turkey: A prospective study. Genetics and Molecular Research, 8, 915-922. doi:10.4238/vol8-3gmr616

[27]   Akgul, M., Ozkinay, F., Ercal, D., Cogulu, O., Dogan, O., Altay, B., Tavmergen, E., Gunduz, C. and Ozkinay, C. (2009) Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review. Journal of Assisted Reproduction and Genetics, 26, 119-122. doi:10.1007/s10815-009-9296-8

[28]   Samli, H., Samli, M.M., Solak, M. and Imirzalioglu, N. (2006) Genetic anomalies detected in patients with non-obstructive azoospermia and oligozoospermia. Archives of Andrology, 52, 263-267. doi:10.1080/01485010600664032

[29]   Nagvenkar, P., Desai, K., Hinduja, I. and Zaveri, K. (2005) Chromosomal studies in infertile men with oligozoospermia & non-obstructive azoospermia. Indian Journal of Medical Research, 122, 34-42.