Klinefelter syndrome underdiagnosed

January 01, 0001

Klinefelter syndrome underdiagnosed

The aim of this study by researchers from Melbourne was to determine the prevalence and diagnosis rates of Klinefelter syndrome (KS) in Victoria, Australia, and compare these to previous international findings. It consisted of 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.

The birth prevalence of KS in Victoria is estimated to be 223 per 100,000 males, with about 50% of cases remaining undiagnosed.

The researchers concluded: "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."

This diagnosis is worth considering, especially now that there are some therapeutic options.


For the full abstract, click here.

MJA 194(1):24-28, 3 January 2011 © The Medical Journal of Australia 2011
The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison. Amy S Herlihy, Jane L Halliday, Megan L Cock and Robert I McLachlan. Correspondence to Amy Herlihy: [email protected]

Category: A. General/Unspecified. Keywords: Klinefelter syndrome, population-based descriptive study, journal watch.
Synopsis edited by Dr Stephen Wilkinson, Melbourne, Australia. Posted on Global Family Doctor 28 February 2011

Pearls are an independent product of the Cochrane primary care group and are meant for educational use and not to guide clinical care.

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