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  • Spermatozoïdes Épididymaires et Génétique
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Estimation du taux d’aneuploïdies des spermatozoïdes épididymaires prélevés en vue d’ICSI chez des hommes à caryotype normal

Estimation of the aneuploidy rate in epididymal spermatozoa retrieved for ICSI in men with a normal karyotype

Andrologie volume 12, pages 351–356 (2002)Cite this article

Resume

Depuis une dizaine d’années de nombreux travaux ont tenté d’estimer par FISH le taux d’aneuploïdies des spermatozoïdes humains éjaculés. La majorité des études réalisées chez l’homme à caryotype normal montrent que le taux de disomies par paire chromosomique se situe entre 0,15 et 0,30 %. Le but de notre travail a été d’évaluer le taux d’aneuploïdies de spermatozoïdes épididymaires prélevés chirurgicalement lors de techniques MESA (Microscopical Epididymal Sperm Aspiration) en vue d’AMP chez 5 patients présentant une azoospermie excrétoire et pour lesquels le bilan génétique habituel (caryotype, recherche de mutations du gène CFTR et de microdélétions du chromosome Y) n’a pas révélé de particularité.

La technique de triple FISH X, Y, 8 a été appliquée sur des étalements de spermatozoïdes à noyaux préalablement décondensés; 18013 spermatozoïdes épididymaires et 20000 spermatozoïdes issus de patients à spermogramme normal ont été analysés.

Les taux de disomies observés pour la population de spermatozoïdes épididymaires ne diffèrent pas significantivement de ceux du groupe témoin de spermatozoïdes éjaculés. Des différences ponctuelles peuvent être observées entre un patient et le groupe témoins, mais elles ne sont pas statistiquement significatives.

L’utilisation de spermatozoïdes épididymaires en ICSI, chez des patients présentant une azoospermie excrétoire sans cause génétique apparente, ne semble pas présenter un risque accru de transmission de déséquilibre chromosomique à l’enfant.

Abstract

Over the last ten years, fluorescent in situ hybridization in decondensed sperm nuclei has been used to study the chromosomal constitution of human spermatozoa. Studies have estimated that the disomy rate per chromosomal pairs is between 0.15% and 0.3%. The aim of this study was to evaluate the aneuploidy rate of human epididymal spermatozoa extracted from five men with obstructive azoospermia undergoing IVF. Genetic studies (karyotypes, Y micodeletion syndrome and mutation of the CFTR gene) did not reveal any abnormality.

Disomy frequencies were determined by X-Y-8 multicolour fluorescence in situ hybridisation on 18,013 epididymal spermatozoa and 20,000 spermatozoa from healthy donors (control group).

No significant difference was found between epididymal and ejaculated samples. However, isolated non-significant differences were observed between one of the patients and the control group.

In conclusion, the present findings suggests that there is no increased risk for de novo chromosomal aberrations after IVF therapy with epididymal spermatozoa of men with obstructive azoospermia.

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Authors and Affiliations

  1. Service de Génétique, Histologie, Biologie du Développement et de la Reproduction, CECOS, Besançon

    Christophe Roux, Florence Fellmann & Jean-Luc Bresson

  2. Service d’Urologie, Andrologie

    Hugues Bittard

  3. EA no 3185: Génétique et Reproduction, CHU Saint Jacques, Besançon

    Christophe Tripogney, Christophe Roux, Oxana Blagosklonova, Florence Fellmann, Hugues Bittard & Jean-Luc Bresson

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  1. Christophe Tripogney
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Correspondence to Christophe Tripogney.

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Tripogney, C., Roux, C., Blagosklonova, O. et al. Estimation du taux d’aneuploïdies des spermatozoïdes épididymaires prélevés en vue d’ICSI chez des hommes à caryotype normal. Androl. 12, 351–356 (2002). https://doi.org/10.1007/BF03034653

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Basic and Clinical Andrology

ISSN: 2051-4190