Determination of y chromosome microdeletions (azf genes) in infertile men at the Çukurova Region

Infertility affects approximately 15% of all married couples and half of the cases are male related. Three different regions have been mapped on the long arm of the Y chromosome, named ?Azospermic Factor? (AZFa, b and c), are involved in the control of spermatogenesis. Microdeletions in these gene loci may result in azoospermia or severe oligozoospermia.In this study, the frequency of Y chromosome microdeletions among 63 infertile male (38 azoospermic, 25 severe oligozoospermic) evaluated by multiplex PCR (polymerase chain reaction) using 20 gene-spesific primers (STS). Microdeletions frequency were detected in all cases is 6.3% (4/63), 7.8% (3/38) of azoospermic, and 4% (1/25) of severe oligozoospermic group. We found one deletion in azoospermic group is involving complete AZFb and AZFc region and incomplete proximal c/d regions, another deletions in azoospermic group, involved AZFb and AZFc except DYS221 locus. One individual in azoospermic group and one individual in severe oligozoospermic group are involved only AZFc region. We believe that, if the functions of the all genes that play role in spermatogenesis are explained, it will be important to understanding of about the etiology of male infertility.In this study, plasma concentrations of follicle stimulating hormone (FSH), luteinizing hormone (LH), prolactin, testosterone and leptin were measured by radioimmunoassay in 10 fertile control group and 63 infertile male (38 azoospermic, 25 severe oligozoospermic) and investigated to relation Y chromosome microdeletions. FSH and LH levels were significantly elevated in azoospermic group than control and severe oligozoospermic groups (p:0.000). Prolactin levels were significantly elevated in azoospermic group than control group (P:0.000). Although the difference was found in plasma testosterone and leptin levels in between individuals, there was no statistically significant. High plasma FSH and LH levels shows that inefficient response of Sertoli and Leydig cell to these hormones.Key words: Infertility, Y chromosome microdeletions, AZF genes, hormones