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Advances in Urology
Volume 2012 (2012), Article ID 384520, 7 pages
http://dx.doi.org/10.1155/2012/384520
Review Article

Male Infertility and Its Causes in Human

1Department of Obstetrics and Gynecology, Asahikawa Medical University, Midorigaokahigashi 2-1-1-1, Asahikawa, Hokkaido 078-8510, Japan
2Department of Urology, Osaka University Graduate School of Medicine, Yamadaoka 2-2, Suita, Osaka 565-0871, Japan
3Department of Integrated Cancer Therapy and Urology, Kanazawa University Graduate School of Medical Science, Takaramachi 13-1, Kanazawa, Ishikawa 920-8641, Japan

Received 6 August 2011; Accepted 20 August 2011

Academic Editor: Miroslav L. Djordjevic

Copyright © 2012 Toshinobu Miyamoto et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. M. M. Matzuk and D. J. Lamb, “Genetic dissection of mammalian fertility pathways,” Nature Medicine, vol. 8, supplement 1, pp. S41–S49, 2002. View at Google Scholar · View at Scopus
  2. D. Whorton, R. M. Krauss, S. Marshall, and T. Milby, “Infertility in male pesticide workers,” The Lancet, vol. 2, no. 8051, pp. 1259–1261, 1977. View at Google Scholar · View at Scopus
  3. E. Carlsen, A. Giwercman, N. Keiding, and N. E. Skakkebaek, “Evidence for decreasing quality of semen during past 50 years,” British Medical Journal, vol. 305, no. 6854, pp. 609–613, 1992. View at Google Scholar · View at Scopus
  4. A. Brake and W. Krause, “Decreasing quality of semen,” British Medical Journal, vol. 305, no. 6867, p. 1498, 1992. View at Google Scholar · View at Scopus
  5. A. W. Zorgniotti, A. I. Sealfon, and A. Toth, “Further clinical experience with testis hypothermia for infertility due to poor semen,” Urology, vol. 19, no. 6, pp. 636–640, 1982. View at Google Scholar · View at Scopus
  6. L. Carosi and F. Calabrò, “Fertility in couples working in noisy factories,” Folia Medica, vol. 51, no. 4, pp. 264–268, 1968. View at Google Scholar · View at Scopus
  7. T. F. Sandeman, “The effects of x irradiation on male human fertility,” British Journal of Radiology, vol. 39, no. 468, pp. 901–907, 1966. View at Google Scholar · View at Scopus
  8. I. Lancranjan, M. Maicanescu, E. Rafaila, I. Klepsch, and H. I. Popescu, “Gonadic function in workmen with long term exposure to microwaves,” Health Physics, vol. 29, no. 3, pp. 381–383, 1975. View at Google Scholar
  9. S. Kenkel, C. Rolf, and E. Nieschlag, “Occupational risks for male fertility: an analysis of patients attending a tertiary referral centre,” International Journal of Andrology, vol. 24, no. 6, pp. 318–326, 2001. View at Publisher · View at Google Scholar · View at Scopus
  10. R. J. Levine, R. M. Mathew, C. B. Chenault et al., “Differences in the quality of semen in outdoor workers during summer and winter,” New England Journal of Medicine, vol. 323, no. 1, pp. 12–16, 1990. View at Google Scholar · View at Scopus
  11. P. Thonneau, B. Ducot, L. Bujan, R. Mieusset, and A. Spira, “Heat exposure as a hazard to male fertility,” The Lancet, vol. 347, no. 8995, pp. 204–205, 1996. View at Publisher · View at Google Scholar · View at Scopus
  12. S. G. Selevan, L. Borkovec, V. L. Slott et al., “Semen quality and reproductive health of young Czech men exposed to seasonal air pollution,” Environmental Health Perspectives, vol. 108, no. 9, pp. 887–894, 2000. View at Google Scholar
  13. N. Jorgensen, A. G. Andersen, F. Eustache et al., “Regional differences in semen quality in Europe,” Human Reproduction, vol. 16, no. 5, pp. 1012–1019, 2001. View at Google Scholar
  14. W. Y. Wong, G. A. Zielhuis, C. M. Thomas, H. M. Merkus, and R. P. Steegers-Theunissen, “New evidence of the influence of exogenous and endogenous factors on sperm count in man,” European Journal of Obstetrics Gynecology and Reproductive Biology, vol. 110, no. 1, pp. 49–54, 2003. View at Publisher · View at Google Scholar
  15. L. de Gennaro, S. Balistreri, A. Lenzi, F. Lombardo, M. Ferrara, and L. Gandini, “Psychosocial factors discriminate oligozoospermic from normozoospermic men,” Fertility and Sterility, vol. 79, supplement 3, pp. 1571–1576, 2003. View at Publisher · View at Google Scholar · View at Scopus
  16. K. R. Muthusami and P. Chinnaswamy, “Effect of chronic alcoholism on male fertility hormones and semen quality,” Fertility and Sterility, vol. 84, no. 4, pp. 919–924, 2005. View at Publisher · View at Google Scholar · View at Scopus
  17. N. B. Oldereid, H. Rui, and K. Purvis, “Life styles of men in barren couples and their relationship to sperm quality,” International Journal of Fertility, vol. 37, no. 6, pp. 343–349, 1992. View at Google Scholar · View at Scopus
  18. I. Effendy and W. Krause, “Environmental risk factors in the history of male patients of an infertility clinic,” Andrologia, vol. 19, pp. 262–265, 1987. View at Google Scholar · View at Scopus
  19. L. Tiepolo and O. Zuffardi, “Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm,” Human Genetics, vol. 34, no. 2, pp. 119–124, 1976. View at Google Scholar · View at Scopus
  20. P. Vogt, A. C. Chandley, T. B. Hargreave, R. Keil, K. Ma, and A. Sharkey, “Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene,” Human Genetics, vol. 89, no. 5, pp. 491–496, 1992. View at Google Scholar · View at Scopus
  21. R. Reijo, T. Y. Lee, P. Salo et al., “Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene,” Nature Genetics, vol. 10, no. 4, pp. 383–393, 1995. View at Google Scholar · View at Scopus
  22. P. H. Vogt, A. Edelmann, S. Kirsch et al., “Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11,” Human Molecular Genetics, vol. 5, no. 7, pp. 933–943, 1996. View at Publisher · View at Google Scholar · View at Scopus
  23. D. J. Kenan, C. C. Query, and J. D. Keene, “RNA recognition: towards identifying determinants of specificity,” Trends in Biochemical Sciences, vol. 16, no. 6, pp. 214–220, 1991. View at Google Scholar · View at Scopus
  24. C. G. Burd and G. Dreyfuss, “Conserved structures and diversity of functions of RNA-binding proteins,” Science, vol. 265, no. 5172, pp. 615–621, 1994. View at Google Scholar · View at Scopus
  25. D. J. Elliott, M. R. Millar, K. Oghene et al., “Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm,” Proceedings of the National Academy of Sciences of the United States of America, vol. 94, no. 8, pp. 3848–3853, 1997. View at Publisher · View at Google Scholar · View at Scopus
  26. C. Sun, H. Skaletsky, B. Birren et al., “An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y,” Nature Genetics, vol. 23, no. 4, pp. 429–432, 1999. View at Publisher · View at Google Scholar · View at Scopus
  27. L. Yuan, J. G. Liu, J. Zhao, E. Brundell, B. Daneholt, and C. Höög, “The murine SCP3 gene is required for synaptonemal complex assembly, chromosome synapsis, and male fertility,” Molecular Cell, vol. 5, no. 1, pp. 73–83, 2000. View at Google Scholar · View at Scopus
  28. M. J. Dobson, R. E. Pearlman, A. Karaiskakis, B. Spyropoulos, and P. B. Moens, “Synaptonemal complex proteins: occurrence, epitope mapping and chromosome disjunction,” Journal of Cell Science, vol. 107, no. 10, pp. 2749–2760, 1994. View at Google Scholar · View at Scopus
  29. J. H. Lammers, H. H. Offenberg, M. van Aalderen, A. C. Vink, A. J. Dietrich, and C. Heyting, “The gene encoding a major component of the lateral elements of synaptonemal complexes of the rat is related to X-linked lymphocyte-regulated genes,” Molecular and Cellular Biology, vol. 14, no. 2, pp. 1137–1146, 1994. View at Google Scholar · View at Scopus
  30. L. Yuan, J. Pelttari, E. Brundell et al., “The synaptonemal complex protein SCP3 can form multistranded, cross- striated fibers in vivo,” Journal of Cell Biology, vol. 142, no. 2, pp. 331–339, 1998. View at Publisher · View at Google Scholar · View at Scopus
  31. L. Yuan, J. G. Liu, M. R. Hoja, J. Wilbertz, K. Nordqvist, and C. Höög, “Female germ cell aneuploidy and embryo death in mice lacking the meiosis-specific protein SCP3,” Science, vol. 296, no. 5570, pp. 1115–1118, 2002. View at Publisher · View at Google Scholar · View at Scopus
  32. T. Miyamoto, S. Hasuike, L. Yogev et al., “Azoospermia in patients heterozygous for a mutation in SYCP3,” The Lancet, vol. 362, no. 9397, pp. 1714–1719, 2003. View at Publisher · View at Google Scholar · View at Scopus
  33. R. L. Meuwissen, H. H. Offenberg, A. J. Dietrich, A. Riesewijk, M. van Iersel, and C. Heyting, “A coiled-coil related protein specific for synapsed regions of meiotic prophase chromosomes,” EMBO Journal, vol. 11, no. 13, pp. 5091–5100, 1992. View at Google Scholar · View at Scopus
  34. A. N. Yatsenko, A. Roy, R. Chen et al., “Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL 10 mutations in oligozoospermic patients impair homodimerization,” Human Molecular Genetics, vol. 15, no. 23, pp. 3411–3419, 2006. View at Publisher · View at Google Scholar · View at Scopus
  35. W. Yan, I. Ma, K. H. Burns, and M. M. Matzuk, “Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice,” Proceedings of the National Academy of Sciences of the United States of America, vol. 101, no. 20, pp. 7793–7798, 2004. View at Publisher · View at Google Scholar · View at Scopus
  36. S. Wang, H. Zheng, Y. Esaki, F. Kelly, and W. Yan, “Cullin3 is a KLHL10-interacting protein preferentially expressed during late spermiogenesis,” Biology of Reproduction, vol. 74, no. 1, pp. 102–108, 2006. View at Publisher · View at Google Scholar · View at Scopus
  37. K. Dieterich, R. S. Rifo, A. K. Faure et al., “Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility,” Nature Genetics, vol. 39, no. 5, pp. 661–665, 2007. View at Publisher · View at Google Scholar · View at Scopus
  38. S. Kimmins, C. Crosio, N. Kotaja et al., “Differential functions of the aurora-B and aurora-C kinases in mammalian spermatogenesis,” Molecular Endocrinology, vol. 21, no. 3, pp. 726–739, 2007. View at Publisher · View at Google Scholar · View at Scopus
  39. A. H. Dam, I. Feenstra, J. R. Westphal, L. Ramos, R. J. van Golde, and J. A. Kremer, “Globozoospermia revisited,” Human Reproduction Update, vol. 13, no. 1, pp. 63–75, 2007. View at Publisher · View at Google Scholar · View at Scopus
  40. B. Dale, M. Iaccarino, A. Fortunato, G. Gragnaniello, K. Kyozuka, and E. Tosti, “A morphological and functional study of fusibility in round-headed spermatozoa in the human,” Fertility and Sterility, vol. 61, no. 2, pp. 336–340, 1994. View at Google Scholar · View at Scopus
  41. S. Florke-Gerloff, E. Topfer-Petersen, W. Muller-Esterl et al., “Biochemical and genetic investigation of round-headed spermatozoa in infertile men including two brothers and their father,” Andrologia, vol. 16, no. 3, pp. 187–202, 1984. View at Google Scholar
  42. Z. Kilani, R. Ismail, S. Ghunaim et al., “Evaluation and treatment of familial globozoospermia in five brothers,” Fertility and Sterility, vol. 82, no. 5, pp. 1436–1439, 2004. View at Publisher · View at Google Scholar · View at Scopus
  43. X. Xu, P. A. Toselli, L. D. Russell, and D. C. Seldin, “Globozoospermia in mice lacking the casein kinase II α catalytic subunit,” Nature Genetics, vol. 23, no. 1, pp. 118–121, 1999. View at Publisher · View at Google Scholar · View at Scopus
  44. N. Kang-Decker, G. T. Mantchev, S. C. Juneja, M. A. McNiven, and J. M. van Deursen, “Lack of acrosome formation in Hrb-deficient mice,” Science, vol. 294, no. 5546, pp. 1531–1533, 2001. View at Publisher · View at Google Scholar · View at Scopus
  45. R. Yao, C. Ito, Y. Natsume et al., “Lack of acrosome formation in mice lacking a Golgi protein, GOPC,” Proceedings of the National Academy of Sciences of the United States of America, vol. 99, no. 17, pp. 11211–11216, 2002. View at Publisher · View at Google Scholar · View at Scopus
  46. A. H. D. M. Dam, I. Koscinski, J. A. M. Kremer et al., “Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia,” American Journal of Human Genetics, vol. 81, no. 4, pp. 813–820, 2007. View at Publisher · View at Google Scholar · View at Scopus
  47. M. Xu, J. Xiao, J. Chen et al., “Identification and characterization of a novel human testis-specific Golgi protein, NYD-SP12,” Molecular Human Reproduction, vol. 9, no. 1, pp. 9–17, 2003. View at Publisher · View at Google Scholar · View at Scopus
  48. H. Sato, T. Miyamoto, L. Yogev et al., “Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest,” Journal of Human Genetics, vol. 51, no. 6, pp. 533–540, 2006. View at Publisher · View at Google Scholar · View at Scopus
  49. T. Miyamoto, E. Koh, N. Sakugawa et al., “Two single nucleotide polymorphisms in PRDM9 (MEISETZ) gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest,” Journal of Assisted Reproduction and Genetics, vol. 25, no. 11-12, pp. 553–557, 2008. View at Publisher · View at Google Scholar · View at Scopus
  50. T. Miyamoto, A. Tsujimura, Y. Miyagawa et al., “A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest,” Asian Journal of Andrology, vol. 11, no. 5, pp. 623–628, 2009. View at Publisher · View at Google Scholar · View at Scopus
  51. N. Sakugawa, T. Miyamoto, A. Tsujimura et al., “LMTK2 and PARP-2 gene polymorphism and azoospermia secondary to meiotic arrest,” Journal of Assisted Reproduction and Genetics, vol. 26, no. 9-10, pp. 545–552, 2009. View at Publisher · View at Google Scholar · View at Scopus
  52. T. Miyamoto, A. Tsujimura, Y. Miyagawa et al., “Single nucleotide 4 polymorphism in the UBR2 gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest,” Journal of Assisted Reproduction and Genetics, vol. 28, no. 8, pp. 743–746, 2011. View at Publisher · View at Google Scholar
  53. H. Miyakawa, T. Miyamoto, E. Koh et al., “Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with sertoli cell-only syndrome,” Journal of Andrology. In press.
  54. M. R. Safarinejad, N. Shafiei, and S. Safarinejad, “Relationship between genetic polymorphisms of methylenetetra-hydrofolate reductase (C677T, A1298C, and G1793A) as risk factors for idiopathic male infertility,” Reproductive Sciences, vol. 18, no. 3, pp. 304–315, 2011. View at Publisher · View at Google Scholar
  55. M. R. Safarinejad, N. Shafiei, and S. Safarinejad, “Association of the (TAAAA)n repeat and Asp327Asn polymorphisms in the sex hormone-binding globulin (SHBG) gene with idiopathic male infertility and relation to serum SHBG concentrations,” Journal of Steroid Biochemistry and Molecular Biology, vol. 123, no. 1-2, pp. 37–45, 2011. View at Publisher · View at Google Scholar · View at Scopus
  56. A. Gu, G. Ji, X. Shi et al., “Genetic variants in Piwi-interacting RNA pathway genes confer susceptibility to spermatogenic failure in a Chinese population,” Human Reproduction, vol. 25, no. 12, pp. 2955–2961, 2010. View at Publisher · View at Google Scholar · View at Scopus
  57. A. O. Hammoud, J. Griffin, A. W. Meikle, M. Gibson, C. M. Peterson, and D. T. Carrell, “Association of aromatase (TTTAn) repeat polymorphism length and the relationship between obesity and decreased sperm concentration,” Human Reproduction, vol. 25, no. 12, pp. 3146–3151, 2010. View at Publisher · View at Google Scholar · View at Scopus
  58. A. Gu, G. Ji, Y. Zhou et al., “Polymorphisms of nucleotide-excision repair genes may contribute to sperm DNA fragmentation and male infertility,” Reproductive BioMedicine Online, vol. 21, no. 5, pp. 602–609, 2010. View at Publisher · View at Google Scholar · View at Scopus
  59. G. T. Vani, N. Mukesh, B. S. Prasad et al., “Role of glutathione S-transferase Mu-1 (GSTM1) polymorphism in oligospermic infertile males,” Andrologia, vol. 42, no. 4, pp. 213–217, 2010. View at Publisher · View at Google Scholar · View at Scopus
  60. J. Ma, H. Y. Lu, Y. K. Xia et al., “BCL2 Ala43Thr is a functional variant associated with protection against azoospermia in a Han-Chinese population,” Biology of Reproduction, vol. 83, no. 4, pp. 656–662, 2010. View at Publisher · View at Google Scholar · View at Scopus
  61. M. R. Safarinejad, N. Shafiei, and S. Safarinejad, “Association of polymorphisms in the estrogen receptors α, and β (ESR1, ESR2) with the occurrence of male infertility and semen parameters,” Journal of Steroid Biochemistry and Molecular Biology, vol. 122, no. 4, pp. 193–203, 2010. View at Publisher · View at Google Scholar · View at Scopus
  62. M. R. Safarinejad, N. Shafiei, and S. Safarinejad, “The role of endothelial nitric oxide synthase (eNOS) T-786C, G894T, and 4a/b gene polymorphisms in the risk of idiopathic male infertility,” Molecular Reproduction and Development, vol. 77, no. 8, pp. 720–727, 2010. View at Publisher · View at Google Scholar · View at Scopus
  63. A. Khattri, S. S. Bhushan, V. Sireesha et al., “The TNP1 haplotype—GCG is associated with azoospermia,” International Journal of Andrology, vol. 34, no. 2, pp. 173–182, 2011. View at Publisher · View at Google Scholar
  64. Y. Choi, S. Jeon, M. Choi et al., “Mutations in SOHLH1 gene associate with nonobstructive azoospermia,” Human Mutation, vol. 31, no. 7, pp. 788–793, 2010. View at Publisher · View at Google Scholar · View at Scopus
  65. M. R. Safarinejad, N. Shafiei, and S. Safarinejad, “The association of glutathione-S-transferase gene polymorphisms (GSTM1, GSTT1, GSTP1) with idiopathic male infertility,” Journal of Human Genetics, vol. 55, no. 9, pp. 565–570, 2010. View at Publisher · View at Google Scholar · View at Scopus
  66. X. Ding, J. Zhang, J. Fei et al., “Variants of the EPPIN gene affect the risk of idiopathic male infertility in the Han-Chinese population,” Human Reproduction, vol. 25, no. 7, pp. 1657–1665, 2010. View at Publisher · View at Google Scholar · View at Scopus
  67. A. V. Polonikov, S. L. Yarosh, E. V. Kokhtenko, N. I. Starodubova, S. P. Pakhomov, and V. S. Orlova, “The functional genotype of glutathione S-transferase T1 gene is strongly associated with increased risk of idiopathic infertility in Russian men,” Fertility and Sterility, vol. 94, no. 3, pp. 1144–1147, 2010. View at Publisher · View at Google Scholar · View at Scopus
  68. D. Su, W. Zhang, Y. Yang et al., “C.822+126T>G/C: a novel triallelic polymorphism of the TSSK6 gene associated with spermatogenic impairment in a Chinese population,” Asian Journal of Andrology, vol. 12, no. 2, pp. 234–239, 2010. View at Publisher · View at Google Scholar · View at Scopus
  69. H. Zhang, D. Su, Y. Yang et al., “Some single-nucleotide polymorphisms of the TSSK2 gene may be associated with human spermatogenesis impairment,” Journal of Andrology, vol. 31, no. 4, pp. 388–392, 2010. View at Publisher · View at Google Scholar · View at Scopus
  70. M. Droździk, J. Stefankiewicz, R. Kurzawa, W. Górnik, T. Baczkowski, and M. Kurzawski, “Association of the MDR1 (ABCB1) gene 3435C>T polymorphism with male infertility,” Pharmacological Reports, vol. 61, no. 4, pp. 690–696, 2009. View at Google Scholar · View at Scopus
  71. K. Xu, T. Lu, H. Zhou, L. Bai, and Y. Xiang, “The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia,” Clinica Chimica Acta, vol. 411, no. 1-2, pp. 49–52, 2010. View at Publisher · View at Google Scholar · View at Scopus
  72. J. Lee, H. S. Park, H. H. Kim, Y. J. Yun, D. R. Lee, and S. Lee, “Functional polymorphism in H2BFWT-5'UTR is associated with susceptibility to male infertility,” Journal of Cellular and Molecular Medicine, vol. 13, no. 8, pp. 1942–1951, 2009. View at Publisher · View at Google Scholar · View at Scopus
  73. G. R. Wilson, M. L. Sim, K. M. Brody et al., “Molecular analysis of the PArkin co-regulated gene and association with male infertility,” Fertility and sterility, vol. 93, no. 7, pp. 2262–2268, 2010. View at Google Scholar · View at Scopus
  74. W. Wang, N. Lu, Y. Xia et al., “FAS and FASLG polymorphisms and susceptibility to idiopathic azoospermia or severe oligozoospermia,” Reproductive BioMedicine Online, vol. 18, no. 1, pp. 141–147, 2009. View at Google Scholar · View at Scopus