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

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

Amy S Herlihy  1 , Jane L Halliday, Megan L Cock, Robert I McLachlan
Affiliations
Comparative Study

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

Amy S Herlihy et al. Med J Aust. .

Abstract

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.

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