The determination of the frequency of chromosomal abnormalities and y chromosome microdeletions in male factor infertility in Turkish population

Infertility is defined as an inability to conceive a child after one year of regular unprotected intercourse and it is a major health problem affecting about 10- 15% of all the couples. Infertility is due to a male factor in approximately 50% of cases. Human Y chromosome contains genes necessary for gonadal differentiation into a testis and genes for full spermatogenesis. The main purpose of this study is to detect the frequency and type of both chromosomal abnormalities and Y chromosome microdeletions in patients with severe male factor infertility and fertile control subjects. This study was carried out in 90 infertile and 75 fertile men. Results of 90 patients, 30 had nonobstructive azoospermia, 30 had oligozoospermia and 30 had normozoospermia. 5 out of 30 (16.7%) azoospermic patients, 4 out of 30 (13.3%) oligozoospermic patients and 2 out of 30 (6.7%)normozoospermic patients had Y chromosome microdeletions. AZFc locus (63.6%) was the most frequently deleted region. 10 cases with azoospermia, 4 cases with oligozoospermia and 3 cases with normozoospermia had chromosomal abnormalities. 75 men with proven fertility were genetically normal. As a result, various chromosomal abnormalities and deletions of Y chromosome can cause infertility, therefore genetic screening must be suggested to infertile patients. Key words: Male infertility, Y chromosome microdeletion, chromosomal abnormality.