Abstract for presentation at 11th International Congress of Human Genetics

Combined Cytogenetic and Y Chromosome Microdeletion Screening of Turkish Infertile Males

  • A/Prof Dr Dilek Aktas, Department of Genetics, Hacettepe University Medical School, Ankara, TURKEY, Turkey
  • Prof Dr Mehmet Alikasifoglu, Department of Genetics, Hacettepe University Medical School, Ankara, TURKEY, Turkey
  • Prof Dr Hakan Yarali, Department of of Obstetrics & Gynecology, Hacettepe University Medical School, Ankara, TURKEY, Turkey
  • Prof Dr Tarik Aksu, Department of of Obstetrics & Gynecology, Hacettepe University Medical School, Ankara, TURKEY, Turkey
  • Prof Dr Serdar Günalp, Department of of Obstetrics & Gynecology, Hacettepe University Medical School, Ankara, TURKEY, Turkey
  • Prof Dr Ergul Tuncbilek, Department of Genetics, Hacettepe University Medical School, Ankara, TURKEY, Turkey

    • Male infertility due to severe oligozoospermia and azoospermia has been associated with a number of genetic risk factors. The objective of this study is to determine the frequency of chromosomal aberrations and Y chromosome microdeletions in Turkish candidates for intracytoplasmic sperm injection (ICSI). Karyotype analysis and molecular analysis of Yq microdeletions by multiplex-PCR were performed and two hundred eighty six infertile men men presenting with severe oligozoospermia and non-obstructive azoospermia were analyzed. Of the 286 infertile males, various chromosomal aberrations were detected in 9.1%. The rates of these aberrations were 4.2% in severe oligozoospermia and 12.5% in non-obstructive azoospermia. Sex chromosome abnormalities were the most frequent chromosome-related cause of infertility. Furthermore, Yq microdeletions analysis were performed. Ten of all males (3.4%) had AZF deletions and the rates of microdeletions were 2.5% in oligozoospermia and 4.1% in the azoospermia. Y chromosomal microdeletions were mainly associated with male infertility. No patient with AZFa deletion was found and one patient, with AZFb and AZFc deleted, had 46,XY/47,XXY mosaicism. We have shown that a significant number of chromosome aberrations and Yq microdeletions are present in infertile men undergoing ICSI treatment. The overall frequencies of chromosomal abnormalities and Yq microdeletions indicated that they should be performed in patients with severe male factor infertility before undertaking assisted reproduction.

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