Genetic studies in infertile males

The purpose of this study is to investigate of the genetic causes of infertility inmale. The years of marriage of men in our investigation were at least two years andthey do not have any child. In this study 80 cases who attended to our laboratorywere evaluated cytogenetically by karyotyping for chromosome anomalies andmolecular genetically by PCR analysis for microdeletions of Y chromosomeThe mean ages of the men in this study were 32.69 ± 5.01 years. The etiologyof infertility is unknown in 77 of cases (96.3%), classified as idiopathic infertility andknown in 3 of cases, classified as nonidiopathic infertility.According to results of spermiogram, 52 cases had azoospermia and 25 caseshad oligospermia and 3 cases had oligoastenospermia in all cases (n=80).The 71 (88.8%) of 80 cases had normal karyotype (46,XY) and the 9 cases(11.2%) had abnormal karyotype. The 7 of the chromosomal abnormalities weregonosomal with Klinefelter Syndrome and the two were autosomal with translocation.All of the Klinefelter Syndrome had azoospermia, but translocation carriers hadoligospermia.The screening methods for microdeletions were based on multiplex PCRtechnique using 15 Y-chromosome specific STSs, which corresponded to the AZFa,b, c and d regions, respectively. One case had Y microdeletions of AZFc (sY277) andAZFd (sY153) loci,Yq microdeletion were detected in the 1 (1.9%) of 52 azoospermia cases, butnot seen other cases. Combined chromosomal abnormalities and Y chromosomemicrodeletion were not seen in any caseIncluding Y chromosome deletions and chromosomal abnormality, a totalgenetic abnormality rate detected 13.5% in azoospermic cases (7/52) and 8% inoligospermic cases (2/25), but not seen among the cases of oligoastenospermic.The finding our study indicated that; chromosomal abnormalities and Ychromosome microdeletions were occurred more frequently in azoospermic patientsthan oligospermic and oligoastenospermic ones with male factor infertility. In order toVdetect the frequency and types of both chromosomal abnormalities and Ychromosome microdeletions in patients with male factor infertility in Turkishpopulation, the number and selectivity of case and primer (STS) must increased, andit must studied with various tissue. Thus, determination of genetic abnormalities, andproper genetic counseling to infertile couples with male-factor before any infertilitytreatment is important.Keywords: Male infertility, genetic, chromosomal abnormality, Y chromosomemicrodeletion, AZF