title: A genetic survey of 1935 Turkish men with severe male factor infertility.
abstract: Male factor infertility is the sole reason in approximately 25% of couples who suffer from infertility. Genetic factors such as numerical and structural chromosomal abnormalities and microdeletions of the Y chromosome might be the cause of poor semen parameters. The results of karyotype analyses and Y-chromosome microdeletions of 1935 patients with severe male factor infertility, which is the largest series from Turkey, were assessed retrospectively. The frequency of cytogenetic abnormalities among 1214 patients with non-obstructive azoospermia (NOA) and 721 patients with severe oligoasthenoteratozoospermia (OAT) were 16.40 and 5.83% respectively. The overall incidence of Y-chromosome microdeletion was 7.70%. The incidence of Y chromosome microdeletion in patients with NOA and OAT was 9.51 and 1.86% respectively. The abnormality rate increased with the severity of infertility. Some patients (n = 22) were carriers of both chromosomal abnormalities and Y-chromosome microdeletions. Results suggest the need for genetic screening and proper genetic counselling before initiation of assisted reproduction treatment.
authors.affiliation: Department of Obstetrics and Gynaecology, Faculty of Medicine, Atatürk University, Erzurum, Turkey. ykumtepe@hotmail.com
authors.forename: Yakup
authors.initials: Y
authors.lastname: Kumtepe
authors.forename: Cagri
authors.initials: C
authors.lastname: Beyazyurek
authors.forename: Cigdem
authors.initials: C
authors.lastname: Cinar
authors.forename: Isa
authors.initials: I
authors.lastname: Ozbey
authors.forename: Semih
authors.initials: S
authors.lastname: Ozkan
authors.forename: Kadir
authors.initials: K
authors.lastname: Cetinkaya
authors.forename: Güvenc
authors.initials: G
authors.lastname: Karlikaya
authors.forename: Hale
authors.initials: H
authors.lastname: Karagozoglu
authors.forename: Semra
authors.initials: S
authors.lastname: Kahraman
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000453:epidemiology* / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D012189:Retrospective Studies; D012729:Sex Chromosome Aberrations; D014421:Turkey / Q000453:epidemiology