title: The azoospermia factor locus-c region was found to be related to Klinefelter syndrome in Turkish patients.
abstract: We looked for a possible association between Klinefelter syndrome (KFS) and microdeletions in the Y chromosome in Turkish KFS patients. We examined the frequency of KFS in male patients with proven non-obstructive azoospermia and the types of Y chromosome microdeletions in these KFS patients. Fifty azoospermic patients and 50 fertile men were included in this study. KFS was found in 14 azoospermic patients. Y chromosome microdeletions were found in eight KFS patients. Azoospermia factor locus c (AZFc) was the most commonly deleted interval in KFS patients. All KFS patients had elevated plasma follicle-stimulating hormone and luteinizing hormone concentrations, but they had normal plasma testosterone concentrations. Testis biopsy of five samples with Y microdeletions revealed Sertoli cell-only syndrome. No Y microdeletions were found in the fertile group. We concluded that there could be an association between the AZFc region and KFS. Screening for this should be part of diagnostic work-up, particularly in those considering assisted reproduction.
authors.affiliation: Department of Urology, Elaziğ Research and Training Hospital, Turkey. ceylacavit@yahoo.com
authors.forename: C
authors.initials: C
authors.lastname: Ceylan
authors.forename: G G
authors.initials: GG
authors.lastname: Ceylan
authors.forename: T A
authors.initials: TA
authors.lastname: Serel
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D016022:Case-Control Studies; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D005640:Follicle Stimulating Hormone / Q000097:blood; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D029589:Seminal Plasma Proteins / Q000235:genetics*; D013739:Testosterone / Q000097:blood; D014421:Turkey
chemical_list: D029589:Seminal Plasma Proteins; D013739:Testosterone; D005640:Follicle Stimulating Hormone