The Prevelance of Microdeletion of Y Chromosome in Klinefelter's Syndrome.
- Author:
Jong Woo KIM
1
;
Ju Tae SEO
Author Information
1. Department of Urology, Sungkyunkwan University School of Medicine, Seoul, Korea. jtandro@samsung.co.kr
- Publication Type:Original Article
- Keywords:
Klinefelter's syndrome;
Y chromosome;
Chromosome deletion
- MeSH:
Arm;
Chromosome Deletion;
Chromosome Disorders;
DNA;
Humans;
Infertility, Male;
Klinefelter Syndrome*;
Male;
Polymerase Chain Reaction;
Prevalence;
Sequence Tagged Sites;
Spermatogenesis;
Testosterone;
Y Chromosome*
- From:Korean Journal of Urology
2004;45(8):783-787
- CountryRepublic of Korea
- Language:Korean
-
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.
