Cytogenetics of Infertility

  • Linda Marie Randolph

Abstract

The World Health Organization has described infertility as a health problem of global concern. One in seven couples experiences infertility or subfertility (1). Infertility is commonly defined as absence of a pregnancy after a year of unprotected intercourse. For information about cytogenetic aspects of spontaneous abortions, please refer to Chapter 13. Male factor and female factor infertility each account for about 40% of cases of infertility, and the remaining 20% is a combination (2). In this chapter, an overview of known causes of infertility will be presented so that the cytogenetic component’s relative contribution can be placed into context.

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References

  1. 1.
    Greenhall, E. and Vessey, M. (1990) The prevalence of subfertility: our view of the current confusion and a report of two new studies. Fertil. Steril. 54, 978–983.PubMedGoogle Scholar
  2. 2.
    Speroff L. (1999) Women’s healthcare in the 21st century. Maturitas 32,1–9.PubMedCrossRefGoogle Scholar
  3. 3.
    Saenger, P. (1996) Turner’s syndrome. N. Engl. J. Med. 335, 1749–1754.PubMedCrossRefGoogle Scholar
  4. 4.
    Layman, L.C. (2002) The genetic basis of female infertility. In Principles and Practice of Medical Genetics, 4th ed. (Rimoin, D.L., Connor, J.M., Pyeritz, R.E., and Korf, B.R., eds.), Churchill Livingstone, New York, pp. 947–960.Google Scholar
  5. 5.
    Kaneko, N., Kawagoe, S., and Hiroi, M. (1990) Turner’s syndrome—review of the literature with reference to a successful pregnancy outcome. Gynecol. Obstet. Invest. 29, 81–86.PubMedCrossRefGoogle Scholar
  6. 6.
    Magee, A.C., Nevin, N.C., Armstrong, M.J., McGibbon, D., and Nevin, J. (1998) Ullrich-Turner syndrome: seven pregnancies in an apparent 45,X woman. Am. J. Med. Genet. 75, 1–3.PubMedCrossRefGoogle Scholar
  7. 7.
    Kocova, M., Siegel, S.F., Wenger, S.L., Lee, P.A., and Trucco, M. (1993) Detection of Y chromosome sequences in Turner’s syndrome by Southern blot analysis of amplified DNA. Lancet 342, 140–143.PubMedCrossRefGoogle Scholar
  8. 8.
    Davison, R.M., Quilter, C.R., Webb, J., et al. (1998). A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure. Hum. Reprod. 13(11), 3039–3041.PubMedCrossRefGoogle Scholar
  9. 9.
    Simpson, J.L. and Rajkovic, A (2000) Ovarian differentiation and gonadal failure. Am. J. Med. Genet. 89(4), 186–200.CrossRefGoogle Scholar
  10. 10.
    Online Mendelian Inheritance in Man 131200 (http://www.ncbi.nlm.nih/gov/entrez/query.fcgi?db=omim).
  11. 11.
    Gogusev, J., Bouquet de Joliniere, J., Telvi, L., et al. (1999) Detection of DNA copy number changes in human endometriosis by comparitive genomic hybridization. Hum. Genet. 105(5), 444–451.PubMedCrossRefGoogle Scholar
  12. 12.
    Rowe, P.J., Comhaire, F.H., Hargreave, T.B., and Mellows, H.J. (1993) WHO Manual for the Standardized Investigation and Diagnosis of the Infertile Couple. Cambridge University Press, New York.Google Scholar
  13. 13.
    March, M.R. and Isidori, A. (2002) New frontiers in the treatment of male sterility. Contraception 65(4), 279–281.CrossRefGoogle Scholar
  14. 14.
    Lissens, W., Liebaers, I. and Van Steirteghem, A. (2002) Male infertility. In Principles and Practice of Medical Genetics, 4th ed. (Rimoin, D.L., Connor, J.M., Pyeritz, R.E., and Korf, B.R., eds.), Churchill Livingstone, New York, pp. 961–981.Google Scholar
  15. 15.
    Chandley, A.C. (1998) Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility. Hum. Reprod. 13(Suppl. 1), 45–50.PubMedCrossRefGoogle Scholar
  16. 16.
    Hackstein, J.H., Hochstenbach, R., and Pearson, P.L. (2000) Towards an understanding of the genetics of human male infertility: lessons from flies. Trends Genet. 16, 565–572.PubMedCrossRefGoogle Scholar
  17. 17.
    Bor, P., Hindkjaer, J., Kolvraa, S., and Ingerslev, H.J. (2002) Y-chromosome microdeletions and cytogenetic findings in unselected ICSI candidates at a Danish fertility clinic. J. Assist. Reprod. Genet. 19, 224–231.PubMedCentralPubMedCrossRefGoogle Scholar
  18. 18.
    Bonde, J.P.E., Ernst, E., Jensen, T.K., et al. (1998) Relation between semen quality and fertility: a population-based study of 430 first-pregnancy planners. Lancet 352, 1172–1177.PubMedCrossRefGoogle Scholar
  19. 19.
    Gunduz, G., Luleci, G., and Bayukara, M. (1998) Cytogenetic study in 102 infertile men. Urol. Int. 61, 32–34.PubMedCrossRefGoogle Scholar
  20. 20.
    Van Assche, E., Bonduelle, M., Tournaye, H., et al. (1996) Cytogenetics of infertile men. Hum. Reprod. 4(Suppl. 4), 1–26.CrossRefGoogle Scholar
  21. 21.
    Yoshida, A., Miura, K., and Shirai, M. (1997) Cytogenetic survey of 1,007 infertile males. Urol. Int. 58, 166–176.PubMedCrossRefGoogle Scholar
  22. 22.
    Allanson, J.E. and Graham, G.E. (2002) Sex chromosome abnormalities. In Principles and Practice of Medical Genetics, 4th ed. (Rimoin, D.L., Connor, J.M., Pyeritz, R.E., and Korf, B.R., eds.), Churchill Livingstone, New York, pp. 1184–1201.Google Scholar
  23. 23.
    Johnson, M.D. (1998) Genetic risks of intracytoplasmic sperm injection in the treatment of male infertility: recommendations for genetic counseling and screening. Fertil. Steril. 70, 397–411.PubMedCrossRefGoogle Scholar
  24. 24.
    Johannisson R., Schwinger E., Wolff, H.H., vom Ende, V., and Lohrs, U. (1993) The effect of 13;14 translocation on germ-cell differentiation in infertile males. Cytogenet. Cell Genet. 63, 151–155.PubMedCrossRefGoogle Scholar
  25. 25.
    Zuffardi, O. and Tiepolo, L. (1982) Frequencies and types of chromosome abnormalities associated with human male infertility. In Serano Clinical Cologuia on Reproduction. III. Genetic Control of Gamete Production and Function (Crosignani, P.G. and Rubin, B.L., eds.) Academic/Grune & Stratton, London, pp. 261–273.Google Scholar
  26. 26.
    De Braekeleer, M. and Dao, T-N. (1991) Cytogenetic studies in male infertility: a review. Hum. Reprod. 6, 245–250.PubMedGoogle Scholar
  27. 27.
    Tiepolo, L. and Zuffardi, O. (1976) Localization of factors controlling spermatogenesis in the nonfluorescent position of the human Y chromosome long arm. Hum.Genet. 34, 119–134.PubMedCrossRefGoogle Scholar
  28. 28.
    Kent-First, M.G., Kol, S., Muallem, A., et al. (1996) The incidence and possible relevance of Y-linked microdeletions in babies born after intracytoplasmic sperm injection and their infertile fathers. Mol. Hum. Reprod. 2, 943–950.PubMedCrossRefGoogle Scholar
  29. 29.
    Vogt, P.H., Edelmann, A., Kirsch, S., et al. (1996) Human Y chromosome azoospermia factors (AZF) mapped to subregions in Yq11. Hum. Mol. Genet. 5, 933–943.PubMedCrossRefGoogle Scholar
  30. 30.
    Le Bourhis, C., Siffroi, J.P., McElreavey, K., and Dadoune, J P. (2000) Y chromosome microdeletions and germinal mosaicism in infertile males. Mol. Hum. Reprod. 6, 688–693.PubMedCrossRefGoogle Scholar
  31. 31.
    Krausz, C., Quintana-Murci, L., Barbaux, S., et al. (1999) A high frequency of Y chromosome deletions in males with nonidiopathic infertility. J. Clin. Endocrinol. Metab. 84, 3606–3612.PubMedGoogle Scholar
  32. 32.
    Ma, K., Inglis, K.J.D., Sharkey, A., et al. (1993) A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 75, 1287–1295.PubMedCrossRefGoogle Scholar
  33. 33.
    Reijo, R., Lee, T.-Y., Salo, P.et al. (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet. 10, 383–393.PubMedCrossRefGoogle Scholar
  34. 34.
    Weighardt, F., Biamonti, G., and Riva, S. (1996) The roles of heterogeneous nuclear ribonucleoproteins (hnRNP) in RNA metabolism. Bioessays 18, 747–756.PubMedCrossRefGoogle Scholar
  35. 35.
    Elliott, D.J., Millar, M.R., Oghene, K., et al. (1997) Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Proc. Natl. Acad. Sci. USA 94, 3848–3853.PubMedCentralPubMedCrossRefGoogle Scholar
  36. 36.
    Delbridge, M.L., Lingenfelter, P.A., Disteche, C.M., and Graves, J.A. (1999) The candidate spermatogenesis gene RBMY has a homologue on the human X chromosome. Nature Genet. 22, 223–224.PubMedCrossRefGoogle Scholar
  37. 37.
    Saxena, R., Brown, L.G., Hawkins, T., et al. (1996) The DAX gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nature Genet. 14, 292–299.PubMedCrossRefGoogle Scholar
  38. 38.
    Menke, D.B., Mutter, G.L., and Page, D.C. (1997) Expression of DAZ, an azoospermia factor candidate, in human spermatogonia. Am. J. Hum. Genet. 60, 237–241.PubMedCentralPubMedGoogle Scholar
  39. 39.
    Saxena, R., Brown, L.G., Hawkins, T., et al. (1996) The DAZ gene cluster on the human Y chromosome arose from autosomal gene that was transposed, repeatedly amplified and pruned. Nature Genet. 14, 292–299.PubMedCrossRefGoogle Scholar
  40. 40.
    Cram, D.S., Ma, K., Bhasin, S., et al. (2000) Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of do novo deletions. Fertil. Steril. 74, 909–915.PubMedCrossRefGoogle Scholar
  41. 41.
    Levron, J., Aviram-Goldring, A., Madgar, I., Raviv, G., Barkai, G., and Dor, J. (2000) Sperm chromosome analysis and outcome of IVF in patients with non-mosaic Klinefelter’s syndrome. Fertil. Steril. 74, 925–929.PubMedCrossRefGoogle Scholar
  42. 42.
    Giltay, J.C., van Golde, R.J., and Kastrop, P.M. (2000) Analysis of spermatozoa from seven ICSI males with constitutional sex chromosomal abnormalities by fluorescent in situ hybridization. J. Assist. Reprod. Genet. 17, 151–155.PubMedCentralPubMedCrossRefGoogle Scholar
  43. 43.
    Viville, S., Mollard, R., Bach, M.-L., Falquet, C., Gerlinger, P., and Warter, S. (2000) Do morphological anomalies reflect chromosomal aneuploidies? Hum. Reprod. 15, 2563–2566.PubMedCrossRefGoogle Scholar
  44. 44.
    Bonduelle M., van Assche, E., Joris, H., et al. (2002) Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1585 karyotypes and relation to sperm parameters. Hum. Reprod. 17, 2600–2614.PubMedCrossRefGoogle Scholar
  45. 45.
    Palermo, G.D., Colombero, L.T., Schattman, G.L., Davis, O.K., and Rosenwaks, Z. (1996) Evolution of pregnancies and initial follow-up of newborns delivered after intracytoplasmic sperm injection. JAMA 276, 1893–1897.PubMedCrossRefGoogle Scholar
  46. 46.
    Simpson, J.L. and Lamb, D.J. (2001) Genetic effects of intracytoplasmic sperm injection. Semin. Reprod. Med. 19, 239–249.PubMedCrossRefGoogle Scholar
  47. 47.
    Bonduelle, M., Legein, J., Buysse, A., et al. (1996) Prospective follow-up study of 423 children born after intracytoplasmic sperm injection. Hum. Reprod. 11, 1558–1564.PubMedCrossRefGoogle Scholar
  48. 48.
    Kurinczuk, J.J. and Bower, C. (1997) Birth defects in infants conceived by intracytoplasmic sperm injection: an alternative interpretation. Br. Med. J. 315, 1260–1266.CrossRefGoogle Scholar
  49. 49.
    Gicquel, C., Gaston, V., Mandelbaum, J., Siffroi, J.-P., Flahault, A., and Le Bouc, Y. (2003) In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCNQ1OT gene. Am. J. Hum. Genet. 72, 1338–1341.PubMedCentralPubMedCrossRefGoogle Scholar
  50. 50.
    Marchington, D.R., Scott-Brown, M.S., Lamb, V.K., et al. (2002) No evidence for paternal mtDNA transmission to offspring or extra-embryonic tissues after ICSI. Mol. Hum. Reprod. 11, 1046–1049.CrossRefGoogle Scholar
  51. 51.
    Houshmand, M., Holme, E., Hanson, C., Wennerholm, U.B., and Hamberger, L. (1997) Is paternal mitochondrial DNA transferred to the offspring following intracytoplasmic sperm injection? J. Assist. Reprod. Genet. 14, 223–227.PubMedCentralPubMedCrossRefGoogle Scholar

Copyright information

© Humana Press Inc., Totowa, NJ 2005

Authors and Affiliations

  • Linda Marie Randolph
    • 1
  1. 1.Genetic Resources Medical Group Inc. and Childrens Hospital Los AngelesLos Angeles

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