A possible means of countering the underdiagnosis of Klinefelter Syndrome
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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.