Skip to main content
Download PDF
  • Spermatogenèse et AMP
  • Published:

Anomalies génétiques de la spermatogenèse

Genetic disorders of spermatogenesis

Andrologie volume 10, pages 271–273 (2000)Cite this article

Résumé

Le rôle important des anomalies génétiques responsables d’infertilité masculine est de plus en plus clairement reconnu. Des progrès considérables ont été réalisés aux cours des dernières années aussi bien dans la description clinique des formes génétiques d’infertilité masculine que dans la recherche des gènes responsables et de leurs mutations. Nous présentons une revue des connaissances actuelles concernant les anomalies génétiques régulièrement responsables d’infertilité masculine.

Abstract

The important role of genetic abnormalities in the causation of human male infertility is increasingly recognized. Considerable progress has been achieved over the past years both in the clinical delineation of genetic forms of male infertility and in the characterization of the responsible genes and their mutations. We review the current state of knowledge on genetic disorders where male infertility is a major and regular feature.

References

  1. AUGER J., KUNSTMANN J.M., CZYGLIK F., JOUANNET P.: Decline in semen quality among fertile men in Paris during the past 20 years. N. Engl. J. Med., 1995, 332: 281–285.

    Article  PubMed  CAS  Google Scholar 

  2. CARRELL D.T., EMERY B.R., LIU L.: Characterization of aneuploidy rates, protamine levels, ultrastructure, and functional ability of round-headed sperm from two siblings and implications for intracytoplasmic sperm injection. Fertil. Steril., 1999, 71: 511–516.

    Article  PubMed  CAS  Google Scholar 

  3. DOWSING A.T., YONG E.L., CLARK M., MCLACHLAN R.I., DE KRETSER D.M., TROUNSON A.O.: Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene. Lancet, 1999, 354: 640–643.

    Article  PubMed  CAS  Google Scholar 

  4. IN’T VELD P.A., BROEKMANS F.J.M., DE FRANCE H.F., PEARSON P.L., PIETERS M.H.E.C., VAN KOOIJ R.J.: Intracytoplasmic sperm injection (ICSI) and chromosomally abnormal spermatozoa. Hum. Reprod., 1997, 12: 752–754.

    Article  PubMed  CAS  Google Scholar 

  5. LA SPADA A.R., WILSON E.M., LUBAHN D.B., HARDING A.E., FISCHBECK K.H.: Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature, 1991, 352: 77–79.

    Article  PubMed  Google Scholar 

  6. LILFORD R., JONES A.M., BISHOP D.T., THORNTON J., MUELLER R.: Case-control study of whether subfertility in men is familial. Brit. Med. J., 1994, 309: 570–573.

    PubMed  CAS  Google Scholar 

  7. MAK V., ZIELENSKI J., TSUI L.-C.et al.: Cystic fibrosis gene mutations and infertile men with primary testicular failure. Hum. Reprod., 2000, 15: 436–439.

    Article  PubMed  CAS  Google Scholar 

  8. MARMOR D., GROB-MENENDEZ F.: Male infertility due to asthenozoospermia and flagellar anomaly: detection in routine semen analysis. Int. J. Androl., 1991, 14: 108–116.

    Article  PubMed  CAS  Google Scholar 

  9. MCELREAVEY K., KRAUSZ C.: Male infertility and the Y chromosome. Am. J. Hum. Genet., 1999, 64: 928–933.

    Article  PubMed  CAS  Google Scholar 

  10. MESCHEDE D., DWORNICZAK B., NIESCHLAG E., HORST J.: Genetic disorders of the seminal ducts. Biomed. Pharmacother., 1998, 52: 197–203.

    Article  PubMed  CAS  Google Scholar 

  11. MESCHEDE D., HORST J.: Männliche Infertilität im Rahmen genetischer Syndrome. Reproduktionsmedizin, 2000, sous presse.

  12. MESCHEDE D., LEMCKE B., BEHRE H.M., DE GEYTER C., NIESCHLAG E., HORST J.: Clustering of male infertility in the families of couples treated with intracytoplasmic sperm injection. Hum. Reprod., 2000, sous presse.

  13. OKADA H., FUJIOKA H., TATSUMI N.et al.: Assisted reproduction for infertile patients with 9+0 immotile spermatozoa associated with autosomal dominant polycystic kidney disease. Hum. Reprod., 1999, 14: 110–113.

    Article  PubMed  CAS  Google Scholar 

  14. PAGE D.C., SILBER S., BROWN L.G.: Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility. Hum. Reprod., 1999, 14: 1722–1726.

    Article  PubMed  CAS  Google Scholar 

  15. TUERLINGS J.H.A.M., MOL B., KREMER J.A.M.et al.: Mutation frequency of cystic fibrosis transmembrane regulator is not increased in oligozoospermic male candidates for intracytoplasmic sperm injection. Fertil. Steril., 1998, 69: 899–903.

    Article  PubMed  CAS  Google Scholar 

  16. VAN ASSCHE E., BONDUELLE M., TOURNAYE H.et al.: Cytogenetics of infertile men. Hum. Reprod., 1996, 11 (Suppl 4): 1–26.

    PubMed  Google Scholar 

  17. VAN DER VEN K., MESSER L., VAN DER VEN H., JEYENDRAN R.S., OBER C.: Cystic fibrosis mutation screening in healthy men with reduced sperm quality. Hum. Reprod., 1996, 11: 513–517.

    PubMed  Google Scholar 

  18. VEGETTI W., VAN ASSCHE E., FRIAS A.et al.: Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in-situ hybridization in infertile men. Hum. Reprod., 2000, 15: 351–365.

    Article  PubMed  CAS  Google Scholar 

  19. WESTLANDER G., HAMBERGER L., HANSON C.et al.: Diagnostic epididymal and testicular sperm recovery and genetic aspects in azoospermic men. Hum. Reprod., 1999, 14: 118–122.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute of Human Genetics of the University, Vesaliusweg 12-14, D-48149, Münster, Germany

    D. Meschede

Authors
  1. D. Meschede
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

Traduction par H. Lejeune

Rights and permissions

Reprints and permissions

About this article

Cite this article

Meschede, D. Anomalies génétiques de la spermatogenèse. Androl. 10, 271–273 (2000). https://doi.org/10.1007/BF03034747

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF03034747

Mots clés

Key words

Basic and Clinical Andrology

ISSN: 2051-4190