Mortality in women with turner syndrome in Great Britain: a national cohort study.
BACKGROUND
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.


OBJECTIVE
Our objective was to investigate mortality and causes of death in women with Turner syndrome.


METHODS
We constructed a cohort of women diagnosed with Turner syndrome at almost all cytogenetic centers in Great Britain and followed them for mortality.


METHODS
A total of 3,439 women diagnosed between 1959-2002 were followed to the end of 2006.


METHODS
Standardized mortality ratios (SMRs) and absolute excess risks were evaluated.


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 disease accounted for 41% of excess mortality, with greatest SMRs for aortic aneurysm (SMR = 23.6; 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 congenital cardiac anomalies, diabetes, epilepsy, liver disease, noninfectious enteritis and colitis, 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 population, 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.
Schoemaker
Minouk J
MJ
Section of Epidemiology, Sir Richard Doll Building, Institute of Cancer Research, Sutton, Surrey SM2 5NG, United Kingdom. minouk@icr.ac.uk
Swerdlow
Anthony J
AJ
Higgins
Craig D
CD
Wright
Alan F
AF
Jacobs
Patricia A
PA
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D001014:Aortic Aneurysm / Q000150:complications / Q000401:mortality; D001022:Aortic Valve Insufficiency / Q000150:complications / Q000401:mortality; D002318:Cardiovascular Diseases / Q000453:epidemiology / Q000209:etiology; D002423:Cause of Death; D015331:Cohort Studies; D016001:Confidence Intervals; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007621:Karyotyping; D008875:Middle Aged; D009369:Neoplasms / Q000150:complications / Q000453:epidemiology; D012189:Retrospective Studies; D012306:Risk; D014424:Turner Syndrome / Q000401:mortality*; D006113:United Kingdom / Q000453:epidemiology; D014930:Women; D055815:Young Adult