Chromosomal defects in infertile men with poor semen quality

  • Myriam Ghorbel
  • Siwar Gargouri Baklouti
  • Fatma Ben Abdallah
  • Nacira Zribi
  • Mariem Cherif
  • Rim Keskes
  • Nozha Chakroun
  • Afifa Sellami
  • Neila Belguith
  • Hassen Kamoun
  • Faiza Fakhfakh
  • Leila Ammar-Keskes
Genetics

DOI: 10.1007/s10815-012-9737-7

Cite this article as:
Ghorbel, M., Gargouri Baklouti, S., Ben Abdallah, F. et al. J Assist Reprod Genet (2012) 29: 451. doi:10.1007/s10815-012-9737-7

Abstract

Purpose

To assess the incidence and the type of chromosomal aberrations in males with infertility we reviewed cytogenetic results in 76 Tunisian infertile men (54 nonobstructive azoospermia and 22 oligo-asthenospermia).

Methods

Karyotyping was performed on peripheral blood lymphocytes according to the standard methods. Molecular diagnosis of classical and partial Y-chromosomal microdeletions was performed by amplifying Y-specific STSs markers.

Results

Various numerical and structural chromosome abnormalities were identified in 15 patients (19.48%). The occurrence of chromosomal abnormality in the azoospermics and severe oligo-asthnospermic was 21.7% and 13.5%, respectively. The most common was Klinefelter syndrome, accounting for 10 of the 15 cytogenetic defects. The total frequency of Y chromosomal microdeletions was 17.1%, with respective frequencies in azoospermic and severe oligospermic groups, 11.1% and 31.8%. The most frequent of Y chromosomal deletions were the partial ones (11.1% in azoospermic and 27.2% in oligospermic).

Conclusion

The occurrence of chromosomal abnormalities among infertile males strongly suggests the need for routine genetic testing and counseling prior to the employment of assisted reproduction techniques.

Keyword

Male infertility Chromosome abnormality Klinefelter syndrome Y microdeletions Severe oligo-asthenospermia Azoospermia 

Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Myriam Ghorbel
    • 1
  • Siwar Gargouri Baklouti
    • 1
  • Fatma Ben Abdallah
    • 1
  • Nacira Zribi
    • 1
  • Mariem Cherif
    • 1
  • Rim Keskes
    • 1
  • Nozha Chakroun
    • 2
  • Afifa Sellami
    • 2
  • Neila Belguith
    • 1
  • Hassen Kamoun
    • 1
  • Faiza Fakhfakh
    • 1
  • Leila Ammar-Keskes
    • 1
  1. 1.Laboratory of Human Molecular Genetics, Faculty of MedicineSfaxTunisia
  2. 2.Laboratory of Histology & Embryology, Faculty of MedicineSfaxTunisia

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