Cytogenetic and Y chromosome microdeletions analyses for a cohort of Palestinian oligozoospermic and azoospermic infertile men

ABSTRACT

Genetic causes account for roughly 15% of male infertility in most Western countries. Klinefelter Syndrome and submicroscopic deletions on the Y chromosome involving AZF region are the most common genetic causes of male infertility associated with azoospermia and oligozoospermia. The aim of this study was to assess the frequency of chromosomal aberrations and Y chromosome microdeletions in a group of azoospermic and oligospermic infertile men in the southern part of the West Bank [Occupied Palestinian Territories]. Twenty-seven samples from Hebron and Bethlehem were analyzed by standard G-banding techniques for numerical and structural chromosomal rearrangements. Twenty-six samples were analyzed for Y chromosome microdeletions by multiplex PCR using primers for AZFa, AZFb and AZFc regions. The results showed chromosomal abnormalities only in azoospermic males with 14 patients having abnormal karyotype [25% of all patients 37.8% of azoospermic patients]; 11 had non-mosaic 47,XXY, one mosaic 47,XXY/46,XY, one mosaic 45,X/46,XY, and one 48,XXXY. The present study revealed a higher incidence of chromosomal aberrations than reported for Western populations. None of the subjects was positive for deletions of the AZF regions tested. Another study from Gaza also showed absence of Y chromosome microdeletions in Palestinians. The combined data validate the need for cytogenetic analyses for diagnosis and genetic counseling for infertile Palestinian azoospermic men but that classic microdeletion analysis can be of limited use in this population