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

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.