Skip to main content

Advertisement

Anomalies génétiques de la spermatogenèse

Genetic disorders of spermatogenesis

Article metrics

  • 167 Accesses

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. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. 9.

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

  10. 10.

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

  11. 11.

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

  12. 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. 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.

  14. 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.

  15. 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.

  16. 16.

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

  17. 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.

  18. 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.

  19. 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.

Download references

Author information

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) doi:10.1007/BF03034747

Download citation

Mots clés

  • anomalies chromosomiques
  • infertilité familiale
  • génétique
  • maladies monogéniques
  • spermatogenèse

Key words

  • chromosomal anomalies
  • familial infertility
  • genetics
  • monogenic disorders
  • spermatogenesis