TY - JOUR
T1 - The prevalence and diagnosis rates of Klinefelter syndrome: An Australian comparison
AU - Herlihy, Amy
AU - Halliday, Jane
AU - Cock, Megan
AU - McLachlan, Robert I
PY - 2011
Y1 - 2011
N2 - 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.
AB - 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.
UR - http://www.mja.com.au/public/issues/194_01_030111/her10385_fm.pdf
M3 - Article
SN - 0025-729X
VL - 194
SP - 24
EP - 28
JO - The Medical Journal of Australia
JF - The Medical Journal of Australia
IS - 1
ER -