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Mortality in Women with Turner Syndrome in Great Britain: A National Cohort Study

Mortality in Women with Turner Syndrome in Great Britain: A National Cohort Study,Minouk J. Schoemaker,Anthony J. Swerdlow,Craig D. Higgins,Alan F. Wr

Mortality in Women with Turner Syndrome in Great Britain: A National Cohort Study   (Citations: 6)
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Context: Turner syndrome is characterized by complete or partial X chromosome monosomy. It is associated with substantial morbidity, but mortality risks and causes of death are not well described. Objectives: Our objective was to investigate mortality and causes of death in women with Turner syndrome. DesignandSetting:WeconstructedacohortofwomendiagnosedwithTurnersyndromeatalmost all cytogenetic centers in Great Britain and followed them for mortality. Patients:Atotalof3439womendiagnosedbetween1959-2002werefollowedtotheendof2006. OutcomeMeasures:Standardizedmortalityratios(SMRs)andabsoluteexcessriskswereevaluated. Results: In total, 296 deaths occurred. Mortality was significantly raised overall SMR 3.0; 95% confidence interval (CI) 2.7-3.4 and was raised for nearly all major causes of death. Circulatory diseaseaccountedfor41%ofexcessmortality,withgreatestSMRsforaorticaneurysm(SMR23.6; 95% CI 13.8-37.8) and aortic valve disease (SMR 17.9; 95% CI 4.9-46.0), but SMRs were also raised for other circulatory conditions. Other major contributors to raised mortality included con- genitalcardiacanomalies,diabetes,epilepsy,liverdisease,noninfectiousenteritisandcolitis,renal and ureteric disease, and pneumonia. Absolute excess risks of death were considerably greater at older than younger ages. Conclusions: Mortality in women with Turner syndrome is 3-fold higher than in the general pop- ulation, is raised for almost all major causes of death, and is raised at all ages, with the greatest excess mortality in older adulthood. These risks need consideration in follow-up and counseling of patients and add to reasons for continued follow-up and preventive measures in adult, not just pediatric, care. (J Clin Endocrinol Metab 93: 4735-4742, 2008)
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