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Prescription et pratique de la recherche des microdélétions du chromosome Y en France: résultats de l’enquête nationale réalisée sous l’égide de la Société d’Andrologie de Langue Française

Screening for Y chromosome microdeletions in infertile men in France: a survey of French practice based on 88 IVF centres sponsored by the SALF (Société d’Andrologie de Langue Française)

Resume

La recherche des microdélétions du chromosome Y est conseillée en cas de troubles sévères de la spermatogenèse. Le développement des techniques de biologie moléculaire a rendu ce diagnostic plus accessible en analyse de routine dans le cadre du bilan d’exploration d’une infertilité masculine. Cependant, le diagnostic des microdélétions du chromosome Y n’est pas proposé par tous les centres d’Assistance Médicale à la Procréation (AMP).

Le but de notre enquête était de préciser quelles sont, en France, les conditions de prescription dans tous les centres d’AMP (indications, financement) et de réalisation dans les laboratoires correspondants (techniques employées, facturation), de cette analyse. Nous observons que l’activité de détection des microdélétions est en croissance forte et régulière. L’évolution vers un consensus sur les indications de ce dépistage et vers une technique standardisée, soumise à un contrôle de qualité national, paraît souhaitable. La prise en charge de cette analyse par les organismes d’Assurance Maladie apparaît comme une étape essentielle à sa généralisation en routine. Enfin, l’analyse des réponses à ce questionnaire a révélé une forte demande de diffusion d’information sur ce sujet, de la part des cliniciens et biologistes.

Abstract

Screening for Y chromosome microdeletions is recommended in cases of severe impaired spermatogenesis. Improvement of molecular biology techniques has made this diagnosis more accessible in routine practice when evaluation of male infertility is necessary. However, the diagnosis of Y chromosome microdeletions is not proposed by all IVF centres. The aim of the present study was to specify the prescribing conditions (indication, financing) and practical conduct (methods, billing) for this analysis in France. We observed that microdeletion screening is a rapidly expanding activity. The development of a consensus on the indications for this screening and a standardised technique, with a national quality control, appears to be necessary. The funding of this analysis by French Social Security appears to be an essential step to ensure widespread use in routine practice. Lastly, the answers to our questionnaire revealed a strong demand for information concerning this analysis.

References

  1. 1.

    AKNIN-SEIFER I.E., TOURAINE R.L., LEJEUNE H. et al.: A simple, low cost and non-invasive method for screening Y-chromosome microdeletions in infertile men. Hum. Reprod., 2003, 18: 257–261.

  2. 2.

    BOR P., HINDKJAER J., IINGERSLEV H.J., KOLVRAA S.: Multiplex PCR for screening of microdeletions on the Y chromosome. J. Assist. Reprod. Genet., 2001, 18: 291–298.

  3. 3.

    BRANDELL R.A., MIELNIK A., LIOTTA D. et al.: AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Hum. Reprod., 1998, 13: 2812–2815.

  4. 4.

    CAYAN S., LEE D., BLACK L.D., REIJO PERA R.A., TUREK P.J.: Response to varicocelectomy in oligospermic men with and without defined genetic infertility. Urology, 2001, 57: 530–535.

  5. 5.

    CRAM D.S., MA K., BHASIN S. et al.: Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity ofde novo deletions. Fertil. Steril., 2000, 74: 909–915.

  6. 6.

    DE VRIES J.W., REPPING S., VAN DAALEN S.K. et al.: Clinical relevance of partial AZFc deletions. Fertil. Steril., 2002, 78: 1209–1214.

  7. 7.

    DOHLE G.R., HALLEY D.J., VAN HEMEL J.O. et al.: Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum. Reprod., 2002, 17: 13–16.

  8. 8.

    FERLIN A., MORO E., ROSSI A., DALLAPICCOLA B., FORESTA C.: The human Y chromosome’s azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J. Med. Genet., 2003, 40: 18–24.

  9. 9.

    FOOTE S., VOLLRATH D., HILTON A., PAGE D.C.: The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science, 1992, 258: 60–66.

  10. 10.

    FORESTA C., MORO E., FERLIN A.: Prognostic value of Y deletion analysis. The role of current methods. Hum. Reprod. 2001, 16: 1543–1547.

  11. 11.

    GATTA V., STUPPIA L., CALABRESE G. et al.: A new case of Yq microdeletion transmitted from a normal father to two infertile sons. J. Med. Genet., 2002, 39: E27.

  12. 12.

    GIRARDI S.K., MIELNIK A., SCHLEGEL P.N.: Submicroscopic deletions in the Y chromosome of infertile men. Hum. Reprod., 1997, 12: 1635–1641.

  13. 13.

    HENEGARIU O., HEEREMA N.A., DLOUHY S.R., VANCE G.H., VOGT P.H.: Multiplex PCR: critical parameters and step-by-step protocol. Biotechniques, 1997, 23: 504–511.

  14. 14.

    JARUZELSKA J., KORCZ A., WOJDA A. et al.: Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion. J. Med. Genet., 2001, 38: 798–802.

  15. 15.

    KAMISCHKE A., GROMOLL J., SIMONI M., BEHRE H.M., NIESCHLAG E.: Transmission of a Y chromosomal deletion involving the deleted in azoospermia (DAZ) and chromodomain (CDY1) genes from father to son through intracytoplasmic sperm injection: case report. Hum. Reprod., 1999, 14: 2320–2322.

  16. 16.

    KENT-FIRST M.G., KOL S., MUALLEM A. et al.: The incidence and possible relevance of Y-linked microdeletions in babies born after intracytoplasmic sperm injection and their infertile fathers. Mol. Hum. Reprod., 1996, 2: 943–950.

  17. 17.

    KLEIMAN S.E., MAYMON B.B., YOGEV L., PAZ G., YAVETZ H.: The prognostic role of the extent of Y microdeletion on spermatogenesis and maturity of Sertoli cells. Hum. Reprod., 2001, 16: 399–402.

  18. 18.

    KOSTINER D.R., TUREK P.J., REIJO R.A.: Male infertility: analysis of the markers and genes on the human Y chromosome. Hum. Reprod., 1998, 13: 3032–3038.

  19. 19.

    KRAUSZ C., FORTI G., McELREAVEY K.: The Y chromosome and male fertility and infertility. Int. J. Androl., 2003, 26: 70–75.

  20. 20.

    KRAUSZ C., McELREAVEY K.: Y chromosome and male infertility. Front. Biosci., 1999, 4: E1–8.

  21. 21.

    KRAUSZ C., QUINTANA-MURCI L., McELREAVEY K.: Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Hum. Reprod., 2000, 15: 1431–1434.

  22. 22.

    KURODA-KAWAGUCHI T., SKALETSKY H., BROWN L.G.: et al.: The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat. Genet., 2001, 29: 279–286.

  23. 23.

    MARTINEZ M.C., BERNABE M.J., GOMEZ E. et al.: Screening for AZF deletion in a large series of severely impaired spermatogenesis patients. J. Androl., 2000, 21: 651–655.

  24. 24.

    OATES R.D., SILBER S., BROWN L.G., PAGE D.C.: Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum. Reprod., 2002, 17: 2813–2824.

  25. 25.

    PATRAT C., BIENVENU T., JOUANNET P.: Microdélétions du chromosome Y et infertilité masculine. Ref. Gynecol. Obstet., 2001, 8: 13–20.

  26. 26.

    PATSALIS P.C., SISMANI C., QUINTANA-MURCI L. et al.: Effects of transmission of Y chromosome AZFc deletions. Lancet, 2002, 360: 1222–1224.

  27. 27.

    PETERLIN B., KUNEJ T., SINKOVEC J., GLIGORIEVSKA N., ZORN B.: Screening for Y chromosome microdeletions in 226 Slovenian subfertile men. Hum. Reprod., 2002, 17: 17–24.

  28. 28.

    REIJO R., LEE T.Y., SALO P. et al.: Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat. Genet., 1995, 10: 383–393.

  29. 29.

    REPPING S., SKALETSKY H., LANGE J. et al.: Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am. J. Hum. Genet., 2002, 71: 906–922.

  30. 30.

    SAUT N., TERRIOU P., NAVARRO A., LEVY N., MITCHELL M.J.: The human Y chromosome genes BPY2, CDY1 and DAZ are not essential for sustained fertility. Mol. Hum. Reprod., 2000, 6: 789–793.

  31. 31.

    SAXENA R., DE VRIES J.W., REPPING S. et al.: Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics, 2000, 67: 256–267.

  32. 32.

    SIFFROI J.P., LE BOURHIS C., KRAUSZ C. et al.: Sex chromosome mosaicism in males carrying Y chromosome long arm deletions. Hum. Reprod., 2000, 15: 2559–2562.

  33. 33.

    SIMONI M., BAKKER E., EURLINGS M.C. et al.: Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. Int. J. Androl., 1999, 22: 292–299.

  34. 34.

    SIMONI M., GROMOLL J., DWORNICZAK B. et al.: Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. Fertil. Steril., 1997, 67: 542–547.

  35. 35.

    SIMONI M., KAMISCHKE A., NIESCHLAG E.: Current status of the molecular diagnosis of Y-chromosomal microdeletions in the work-up of male infertility. Initiative for international quality control. Hum. Reprod., 1998, 13: 1764–1768.

  36. 36.

    THORNHILL A.L., GUENTHER A.J., BARBAROTTO G.M. et al.: False-positive Y-microdeletion result for a fertile male caused by an alteration under a PCR primer. Int. J. Androl., 2002, 25: 352–357.

  37. 37.

    TIEPOLO L., ZUFFARDI O.: Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Genet., 1976, 34: 119–124.

  38. 38.

    TILFORD C.A., KURODA-KAWAGUCHI T., SKALETSK H. et al.: A physical map of the human Y chromosome. Nature, 2001, 409: 943–945.

  39. 39.

    TOTH A., TARDY E.P., GOMBOS S. et al.: AZFc deletion detected in a newborn with prenatally diagnosed Yq deletion. Prenat. Diagn., 2001, 21: 253–255.

  40. 40.

    VOGT P.H., EDELMANN A., KIRSCH S. et al.: Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet., 1996, 5: 933–943.

  41. 41.

    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.

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Aknin-Seifer, I.E., Lejeune, H., Touraine, R.L. et al. Prescription et pratique de la recherche des microdélétions du chromosome Y en France: résultats de l’enquête nationale réalisée sous l’égide de la Société d’Andrologie de Langue Française. Androl. 13, 452–464 (2003). https://doi.org/10.1007/BF03035212

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Mots clés

  • chromosome Y
  • enquête
  • France
  • infertilité masculine
  • microdélétions

Key-Words

  • Y chromosome
  • survey
  • France
  • male infertility
  • microdeletions