Genetics of Male Infertility: Essentials for the Clinician

  • Jon L. Pryor
  • Kenneth P. Roberts

Abstract

In the past, the practicing urologist had no particular reason to understand the genetic causes of infertility; such causes were rare and usually little could be done for the afflicted patients. Recent advances in identifying genetic causes of infertility and treating patients with severe oligospermia and azoospermia, however, have made understanding the basics of reproductive genetics essential for the clinician treating infertility patients.

Keywords

Cystic Fibrosis Androgen Receptor Luteinizing Hormone Cystic Fibrosis Transmembrane Conductance Regulator Male Infertility 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Pryor JL, Kent-First M, Muallem A, et al.: Microdeletions in the Y chromosome of infertile men. N Engl J Med 1997, 336:534–539.PubMedCrossRefGoogle Scholar
  2. 2.
    In’t Veld PA, Halley DJJ, van Hemel JO, et al.: Genetic counseling before intracytoplasmic sperm injection. Lancet 1997, 350:490.PubMedCrossRefGoogle Scholar
  3. 3.
    Tournaye H, Liu J, Nagy PZ, et al.: Correlation between testicular histology and outcome after intracytoplasmic sperm injection using testicular spermatozoa. Hum Reprod 1996, 11:127–132.PubMedCrossRefGoogle Scholar
  4. 4.
    Mak V, Jarvi KA: The genetics of male infertility. J Urol 1996, 156:1245–1257.PubMedCrossRefGoogle Scholar
  5. 5.
    Mange EJ, Mange AP: Basic Human Genetics. Sunderland, MA: Sinauer Associates; 1994.Google Scholar
  6. 6.
    Pryor JL: What are the unique chromosomal events leading to the formation of a haploid male germ cell? Handbook of Andrology. Edited by Robaire B, Pryor JL, Trasler JM. San Francisco: American Society of Andrology; 1995.Google Scholar
  7. 7.
    Harrison RF, Barrett T, Stallings R: Cytogenetic analysis is essential before ICSI. Hum Reprod 1997, 12:1835–1838.PubMedCrossRefGoogle Scholar
  8. 8.
    Franco B, Guioli S, Pragliola A, et al.: A gene deleted in Kallmann’s syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 1991, 353:529–536.PubMedCrossRefGoogle Scholar
  9. 9.
    Gordon DL, Krmpotic E, Thomas W, et al.: Pathologic testicular findings in Klinefelter’s syndrome: 47,XXY vs 46,XY/47, XXY. Arch Intern Med 1972, 130:726–729.PubMedCrossRefGoogle Scholar
  10. 10.
    Vogt PH, Edelmann A, Kirsch S, et al.: Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Molec Genet 1996, 5:933–943.PubMedCrossRefGoogle Scholar
  11. 11.
    Ma K, Inglis JD, Sharkey A, et al.: A Y-chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 1993, 75:1287–1295.PubMedCrossRefGoogle Scholar
  12. 12.
    Reijo R, Lee TY, Salo P, et al.: Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genetics 1995, 10:383–393.PubMedCrossRefGoogle Scholar
  13. 13.
    Vollrath D, Foote S, Hilton A, et al.: The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science 1992, 258:52–59.PubMedCrossRefGoogle Scholar
  14. 14.
    Fick RB Jr: Cystic fibrosis and bronchiectasis. In Internal Medicine. Edited by Stein JH, Boston: Little, Brown; 1990:711–717.Google Scholar
  15. 15.
    Chillon M, Casals T, Mercier B, et al.: Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995, 332:1475–1480.PubMedCrossRefGoogle Scholar
  16. 16.
    Costes B, Girodon E, Ghanem N, et al.: Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. Eur J Hum Genet 1995, 3:285–293.PubMedGoogle Scholar
  17. 17.
    Elliasson R, Mossberg B, Camner P, Afzelius BA: The immotile-cilia syndrome: a congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility. N Engl J Med 1977, 297:1–6.CrossRefGoogle Scholar
  18. 18.
    Stryer L: Muscle contraction and cell motility. In Biochemistry edn 3. New York: WH Freeman and Co.; 1988:921–948.Google Scholar
  19. 19.
    Imperato-McGinley J, Peterson RE: Male pseudohermaphroditism: the complexities of male phenotypic development. Am J Med 1976, 61:251–272.PubMedCrossRefGoogle Scholar
  20. 20.
    Schweikert H-U: The androgen resistance syndromes: clinical and biochemical aspects. Eur J Pediatr 1993, 152:S50–S57.PubMedCrossRefGoogle Scholar
  21. 21.
    MacLean HE, Warne GL, Zajac JD: Defects of androgen receptor function: from sex reversal to motor neurone disease. Mol Cell Endocrin 1995, 112:133–141.CrossRefGoogle Scholar
  22. 22.
    Sultan C, Lumbroso S, Poujol N, et al.: Mutations of androgen receptor gene in androgen insensitivity syndromes. J Steroid Biochem Molec Biol 1993, 46:519–530.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1999

Authors and Affiliations

  • Jon L. Pryor
  • Kenneth P. Roberts

There are no affiliations available

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