A possible means of countering the underdiagnosis of Klinefelter Syndrome  

作　　者：Steffi Werler Joachim Wistuba 

机构地区：[1]Centre of Reproductive Medicine and Andrology, Institute of Reproductive and Regenerative Biology, Muenster, Germany,

出　　处：《Asian Journal of Andrology》2014年第5期785-785,共1页亚洲男性学杂志（英文版）

摘　　要：Klinefelter syndrome （KS） is a frequent male genetic disorder （incidence 1：1000 - 2：1000） provoked by a supernumerary X-chromosome and thus a 47,XXY karyotype. Although many efforts have been put into obtaining an experimental and clinical understanding of the syndrome, it remains frustratingly underdiagnosed with a remarkable portion of cases being unidentified, that is only 10% of prepubertal Klinefelter boys being diagnosed as such. This is particularly important as the disease can be associated with several adverse features such as hypergonadotropic hypogonadism and infertility but also metabolic and cognitive alterations, which are causative of significantly increased mortality and morbidity rates in those affected. Therefore, there is a need for novel methods enabling a fast and reliable routine diagnosis of patients. In the paper, ＇Novel Methylation Specific Real Time PCR Test for the Diagnosis of Klinefelter Syndrome＇ published on Asian Journal ofAndrology, Mehta et al.2 reported a molecular assay for KS diagnosis based on the detection of supernumerary X-chromosomes using primers for unmethylated and methylated copies of the X-ch inactive-specific transcript gene （XIST）. The XIST transcript is only expressed in somatic cells when more than one X-chromosome is present. In Klinefelter patients, it has been shown that the supernumerary X-chromosome is inactivated in a similar manner as in women thus it has been suggested that the XIST expression can be used as a means to diagnose KS patients） The recognition of differences in XIST methylation has the potential of providing a very elegant sensitive and fast means of screening and diagnosing KS, even in the setting of low grade 47,XXY/46,XY mosaicism.Klinefelter syndrome （KS） is a frequent male genetic disorder （incidence 1：1000 - 2：1000） provoked by a supernumerary X-chromosome and thus a 47,XXY karyotype. Although many efforts have been put into obtaining an experimental and clinical understanding of the syndrome, it remains frustratingly underdiagnosed with a remarkable portion of cases being unidentified, that is only 10% of prepubertal Klinefelter boys being diagnosed as such. This is particularly important as the disease can be associated with several adverse features such as hypergonadotropic hypogonadism and infertility but also metabolic and cognitive alterations, which are causative of significantly increased mortality and morbidity rates in those affected. Therefore, there is a need for novel methods enabling a fast and reliable routine diagnosis of patients. In the paper, ＇Novel Methylation Specific Real Time PCR Test for the Diagnosis of Klinefelter Syndrome＇ published on Asian Journal ofAndrology, Mehta et al.2 reported a molecular assay for KS diagnosis based on the detection of supernumerary X-chromosomes using primers for unmethylated and methylated copies of the X-ch inactive-specific transcript gene （XIST）. The XIST transcript is only expressed in somatic cells when more than one X-chromosome is present. In Klinefelter patients, it has been shown that the supernumerary X-chromosome is inactivated in a similar manner as in women thus it has been suggested that the XIST expression can be used as a means to diagnose KS patients） The recognition of differences in XIST methylation has the potential of providing a very elegant sensitive and fast means of screening and diagnosing KS, even in the setting of low grade 47,XXY/46,XY mosaicism.

分 类 号：Q344.2[生物学—遗传学] S858.237.2[农业科学—临床兽医学]