Korean J Urol.  2004 Aug;45(8):783-787.

The Prevelance of Microdeletion of Y Chromosome in Klinefelter's Syndrome

• Kim JW
• Seo JT

Abstract

Purpose
The prevalence of microdeletion of the Y chromosome is 13% in non-obstructive azoospermic patients. Klinefelter's syndrome may be found in about 11% of azoospermic patients. The prevalence and correlation of microdeletion of the Y chromosome in Klinefelter's syndrome, which is the most common cause of chromosomal disorders in male infertility, were investigated.
Materials and Methods
Hormone tests (Testosterone, LH and FSH) were performed and peripheral genomic DNA of 82 patients detected as Klinefelter's syndrome between September 2001 and December 2003. The microdeletion of the Y chromosome was examined by a PCR technique. The primers used for the PCR were Sequence-Tagged sites (STS) of the long arm of the Y chromosome (sY84, sY129, sY134, sY254 and sY255) and SRY (control).
Results
The mean age, and values of testosterone, LH and FSH in the 82 Klinefelter's syndrome patients were 32.71 3.13 years, 1.84 1.31ng/ml, 14.88+/-5.38mlU/ml and 38.79 12.40mlU/ml, respectively. No patient in this study was found to have Y chromosomal microdeletion.
Conclusions
As the role of the Y chromosome in the spermatogenesis of male is well known, microdeletion of the Y chromosome causes severe damage to the spermatogenesis in infertile males. A microdeletion of the Y chromosome could not be detected in patients with Klinefelter's syndrome. Therefore, multiple factors or other mechanisms that influence the defect of spermatogenesis in Klinefelter's syndrome may exist.

Keyword

Klinefelter's syndrome; Y chromosome; Chromosome deletion

MeSH Terms

Arm
Chromosome Deletion
Chromosome Disorders
DNA
Humans
Infertility, Male
Klinefelter Syndrome*
Male
Polymerase Chain Reaction
Prevalence
Sequence Tagged Sites
Spermatogenesis
Testosterone
Y Chromosome*
DNA
Testosterone