The azoospermia factor locus-c region was found to be related to Klinefelter syndrome in Turkish patients

Genet Mol Res. 2010 Jun 29;9(2):1229-33. doi: 10.4238/vol9-2gmr826.

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.

MeSH terms

  • Adult
  • Azoospermia / genetics*
  • Case-Control Studies
  • Chromosome Deletion
  • Chromosomes, Human, Y / genetics
  • Follicle Stimulating Hormone / blood
  • Genetic Loci
  • Genetic Predisposition to Disease*
  • Humans
  • Infertility, Male / genetics*
  • Klinefelter Syndrome / genetics*
  • Male
  • Middle Aged
  • Seminal Plasma Proteins / genetics*
  • Testosterone / blood
  • Turkey

Substances

  • Seminal Plasma Proteins
  • Testosterone
  • Follicle Stimulating Hormone