Mortality in young women with turner syndrome is mainly due to aortic dissection - a 25-year follow-up in sweden

Sofia Thunstrom; Erik Thunstrom; Sabine Naessen; Kerstin Berntorp; Margareta Kitlinski; Bertil Ekman; Jeanette Wahlberg; Ingrid Bergstrom; Magnus Isaksson; Carmen Basic; Teresia Svanvik; Inger Bryman; Kerstin Landin-Wilhelmsen

doi:10.1530/endoabs.99.P179

Context: Turner syndrome (TS) is the most common sex chromosome aberration, affecting 1/2500 born girls. Reduced life expectancy has been reported.

Objective: The objective was to investigate the causes of mortality and identify the risk factors that contribute to death in women with TS.

Design and setting: A matched retrospective observational study of women with TS from the Turner centers in Sweden was conducted. Echocardiography was performed on average every 5th year according to the guidelines in TS.

Patients: A total of 472 women with TS, monosomy 57%, and 2357 controls, matched for birthyear and sex, mean age 28 (±12) years, (range 16 - 78) years at inclusion were studied on a mean follow-up period of 17 years (range 1 - 26). Growth hormone had been given to 53%, ongoing estrogen was present in 85% and 13% of the women with TS had given birth to a child.

Outcome Measures: Survival analyses were performed with Cox proportional hazard models. Kaplan-Meier curves were generated. Cumulative incidence rates were evaluated by competing risks analysis, using cumulative incidence function.

Results: During a mean follow-up of 17 years, 35 (7.4%) women with TS and 70 (3.0%) controls died. Mean age at death was 54 (±18) years in TS and 60 (±15) years in controls. All-cause mortality was raised in TS, hazard ratio (HR) 2.90 (1.9-4.4), especially deaths related to cardiovascular diseases showed significantly higher HR: 9.11 (4.5-18.3). During the follow-up period, 20 women with TS experienced aortic dissection (4%) of whom eight died (40%). Death by aortic dissection occurred in two women (0.1%) among the controls. The main contributor to the increased mortality in young women with TS was aortic dissection with 5 deaths below the age of 45 while cardiovascular disease, other than aortic dissection, was not increased in young TS women. Death by cancer or external causes were not raised in TS. No women with TS died of breast cancer. Bicuspid aortic valves and enlarged aortic diameter were risk factors for death in TS. Karyotype, hypertension, previously given growth hormone or ongoing estrogen treatment were not associated with mortality in TS. None died during pregnancy.

Conclusions: The increased mortality observed in women with Turner syndrome in Sweden primarily resulted from cardiovascular disease, with aortic dissection being the single largest specific cause of death among the young. Life-long evaluation of the aortic size is recommended. Special care is needed before and during pregnancy.

Endocrine Abstracts

P179