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The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison
Author(s) -
Herlihy Amy S,
Halliday Jane L,
Cock Megan L,
McLachlan Robert I
Publication year - 2011
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.2011.tb04141.x
Subject(s) - medicine , klinefelter syndrome , medical diagnosis , prevalence , pediatrics , population , demography , prenatal diagnosis , australian population , epidemiology , pregnancy , pathology , environmental health , sociology , fetus , biology , genetics
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.