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

Amy Herlihy, Jane Halliday, Megan Cock, Robert I McLachlan

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106 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)24 - 28
Number of pages5
JournalThe Medical Journal of Australia
Volume194
Issue number1
Publication statusPublished - 2011

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