Cytogenetic abnormalities and azoospermia factor (AZF) microdeletions in infertile men from Kuwait

Approximately 15% of couples in the reproductive age group worldwide are affected by infertility, and it is estimated that about 40-50% of infertilities are of male origin. Genetic factor accounts for 10-15% of severe male infertility, including chromosomal aberrations and single gene mutations (Ferlin et al, 2006). After the Klinfelter syndrome, Y chromosomal microdeletions are the most frequent genetic cause of male infertility (Krausz and Degl'Innocenti, 2006). The three regions, referred to as “azoospermia factors” (AZFa, AZFb and AZFc from proximal to distal) has been defined as spermatogenesis loci (Vogt et al, 1996). In Kuwait, male factor is accounted for infertility in over 40% of couples: the causative factors of this include oligozoospermia, asthenozoospermia and azoospermia (Omu et al, 1999). Previously, we demonstrated that chromosomal aberrations were found in 11% of couples with infertility and reproductive disorders (Alkhalaf et al, 2002). The aim of this study was to analyze the frequency of cytogenetic chromosomal abnormalities and to provide information on the type and prevalence of Y chromosome microdeletions in infertile males that show normal karyotypes. Y-chromosome microdeletions are specific for spermatogenic failure as no deletions have been reported in a large number of normospermic men (Vogt, 2005). Delineating the genetic basis of male nfertility in our population is important in view of the most recent advances in reproductive technologies, which have already been initiated in Kuwait.