클라인펠터 증후군에서의 Y 염색체 미세결실 조사 = The Prevelance of Microdeletion of Y Chromosome in Klinefelter's Syndrome

다국어 초록 (Multilingual 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. (Korean J Urol 2004;45:783-787)

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