title: The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison.
abstract: OBJECTIVE
  To determine the prevalence and diagnosis rates of Klinefelter syndrome (KS) in Victoria, Australia, and compare these to previous international findings.
  
  
  METHODS
  A Victorian population-based descriptive study of all cytogenetic examinations resulting in a diagnosis of KS, including prenatal diagnoses from 1986 to 2006 and postnatal diagnoses from 1991 to 2006.
  
  
  METHODS
  Birth prevalence and diagnosis rates of KS.
  
  
  RESULTS
  The birth prevalence of KS in Victoria is estimated to be 223 per 100,000 males (95% CI, 195-254), with about 50% of cases remaining undiagnosed.
  
  
  CONCLUSIONS
  KS may be occurring more frequently than has been reported previously, yet many cases remain undiagnosed. Our results highlight the need for increased awareness leading to timely detection.
authors: Murdoch Childrens Research Institute, Melbourne, VIC, Australia. amy.herlihy@mcri.edu.au
authors: Amy S
authors: AS
authors: Herlihy
authors: Jane L
authors: JL
authors: Halliday
authors: Megan L
authors: ML
authors: Cock
authors: Robert I
authors: RI
authors: McLachlan
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D001315:Australia / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011296:Prenatal Diagnosis / Q000706:statistics & numerical data; D015995:Prevalence; D055815:Young Adult