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Absence of microdeletions in the azoospermia-factor region of the Y-chromosome in viennese men seeking assisted reproduction

Kein vorkommen von mikrodeletionen der azoospermie-faktor-region des Y-Chromosoms bei Männern, die in wien mit assistierter reproduktion behandelt werden

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Zusammenfassung

Fragestellung

Die Azoospermie-Faktor-Region des Y-Chromosoms ist essentiell für eine intakte Spermiogenese beim Menschen. Bezüglich der Häufigkeit des Auftretens von Mikrodeletionen in dieser Region finden sich in der Literatur unterschiedliche Angaben. Ziel dieser Studie war es, unser eigenes Patientenkollektiv diesbezüglich zu evaluieren.

Patienten und Methoden

An der Universitätsklinik Wien wurden alle männlichen Patienten (n=383), die in der Ambulanz für assistierte Reproduktion vorstellig wurden, zwei Jahre hindurch bezüglich etwaiger Mikrodeletionen der Azoospermie-Faktor Region untersucht. 33 Männer davon waren azoosperm und 154 hochgradig oligozoosperm. Genomische DNA wurde von peripheren Lymphozyten isoliert. PCR Produkte der Azoospermie-Faktor-Region wurden mittels des Promega®-System hergestellt.

Ergebnisse

Es konnte kein Fall (0%) einer Mikrodeletion in der Azoospermie-Faktor-Region des Y-Chromosoms gefunden werden. In allen Fällen konnte eine Amplifikation von 18 non-polymorphen Sequenz DNA Einzelkopien erreicht werden.

Schlussfolgerung

Y-Chromosom-Mikrodeletionen scheinen keinen wichtigen Faktor männlicher Infertilität in unserem Patientenkollektiv darzustellen. Diesbezügliche genetische Untersuchungen sollten daher auf Männer mit Azoospermie oder hochgradiger Oligozoospermie beschränkt bleiben.

Summary

Purpose

The azzospermia-factor region of the Y-chromosome is essential for spermatogenesis in humans. In the literature, a wide range is given for the frequency of microdeletions in this region. The purpose of this study was to evaluate our own population of patients.

Methods

During a two-year period at Vienna Medical School, all male patients (n=383) seeking assisted reproduction were screened for microdeletions. Thirty-three men had azoospermia and 154 severe oligozoospermia. Genomic DNA was prepared from peripheral lymphocytes and polymerase chain reaction analysis of the azoospermia-factor region was performed using the Promega® kit.

Results

No case tested positive for azoospermiafactor microdeletions. In all cases amplification of 18 nonpolymorphic sequence tagged sites was obtained.

Conclusions

Y-chromosome microdeletions do not seem to be an important factor for male infertility in our patients. This suggests that screening should be restricted to men with azoospermia or severe oligozoospermia only.

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Authors and Affiliations

  1. Division of Gynaecologic Endocrinology and Reproductive Medicine, Department of Obstetrics and Gynecology, University of Vienna Medical School, Währinger Gürtel 18-20, A-1090, Vienna, Austria

    Christian J. Gruber, Friedrich Wieser, Doris M. Gruber, Katharina Walch, Kathrin Ferlitsch, Isabel M. L. Gruber & Johannes C. Huber

  2. Prenatal Diagnosis and Therapy, Department of Obstetrics and Gynecology, University of Vienna Medical School, Vienna, Austria

    Markus Hengstschläger, Angela Maar, Eva Marton & Gerhard Bernaschek

Authors
  1. Christian J. Gruber
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  2. Markus Hengstschläger
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  3. Friedrich Wieser
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  4. Doris M. Gruber
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  5. Katharina Walch
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  6. Kathrin Ferlitsch
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  7. Isabel M. L. Gruber
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  8. Angela Maar
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  9. Eva Marton
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  10. Gerhard Bernaschek
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  11. Johannes C. Huber
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Corresponding author

Correspondence to Christian J. Gruber.

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Both authors contributed equally

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Gruber, C.J., Hengstschläger, M., Wieser, F. et al. Absence of microdeletions in the azoospermia-factor region of the Y-chromosome in viennese men seeking assisted reproduction. Wien Klin Wochenschr 115, 831–834 (2003). https://doi.org/10.1007/BF03041043

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  • DOI: https://doi.org/10.1007/BF03041043

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