title: Postnatal screening for Klinefelter syndrome: is there a rationale?
abstract: Diagnosis of Klinefelter syndrome (KS) allows for timely beneficial interventions across the lifespan. Most cases currently remain undiagnosed because of low awareness of KS amongst health professionals, the hesitancy of men to seek medical attention and its variable clinical presentation. Given these barriers, population-based genetic screening provides an approach to comprehensive and early detection. We examine current evidence regarding risks and benefits of diagnosing KS at different ages.
  
  
  CONCLUSIONS
  There is a lack of evidence regarding the influence of age at diagnosis on adult outcomes that can only be obtained through a pilot screening programme.
authors.affiliation: Murdoch Childrens Research Institute, Parkville, Vic., Australia. amy.herlihy@mcri.edu.au
authors.forename: Amy S
authors.initials: AS
authors.lastname: Herlihy
authors.forename: Lynn
authors.initials: L
authors.lastname: Gillam
authors.forename: Jane L
authors.initials: JL
authors.lastname: Halliday
authors.forename: Robert I
authors.initials: RI
authors.lastname: McLachlan
mesh_terms: D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D019317:Evidence-Based Medicine; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007713:Klinefelter Syndrome / Q000175:diagnosis* / Q000523:psychology / Q000534:rehabilitation; D008297:Male; D008403:Mass Screening / Q000379:methods*; D015997:Neonatal Screening; D018570:Risk Assessment