The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison

Med J Aust. 2011 Jan 3;194(1):24-8. doi: 10.5694/j.1326-5377.2011.tb04141.x.


Objective: To determine the prevalence and diagnosis rates of Klinefelter syndrome (KS) in Victoria, Australia, and compare these to previous international findings.

Design, setting and participants: 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.

Main outcome measures: 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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Aged
  • Aged, 80 and over
  • Australia / epidemiology
  • Child
  • Child, Preschool
  • Humans
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Klinefelter Syndrome / diagnosis
  • Klinefelter Syndrome / epidemiology*
  • Klinefelter Syndrome / genetics
  • Male
  • Middle Aged
  • Prenatal Diagnosis / statistics & numerical data
  • Prevalence
  • Young Adult