Abstract

In about 30% of severe male infertility cases genetic disorders are suspected to be the basis. Severe oligoasthenoteratozoospermia and azoospermia is the predominant symptom. Key regions like Yq11 on long arm of the Y chromozome contain important genes responsible for spermatogenesis. A number of spermatogenic defects have been associated with microdeletions of these regions.

We evaluated 28 azoopermic patients, 32 severe oligozoospermiac patients and 9 sanal azoospermic patients applied to our clinic for severe male infertility in 1999. Two spermogram analysis 2-3 weeks apart, hormonal profiles, when necessary transrectal and scrotal ultrasound investigation, chromosomal analysis from peripheral blood were performed. Five STS (sequence-tagged sites) region on chromosome Y were analysed by PCR.

We detected Y chromosome deletions in 5 out of 28 (%18) azoospermic patients, in 7 out of 32 (%21) oligozoospermic patients and in 2 out of 9 (%22) virtual azoospermic patients. Since Y chromosome inheritance is of paternal origin, men with somatic Y chromosome deletions are likely to have male offspring with similar genetic defects after assisted fertilization. Y chromosome microdeletions should be investigated in men before assisted reproduction who suffer severe spermatogenic defects.