Population Prevalence, Cancer Risk, and Mortality Risk of Turner Syndrome in South Korean Women Based on National
Sung Eun Kim1, Sang Hyun Park2, Kyungdo Han3
1Department of Pediatrics, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Purpose:
In South Korea, investigations into Turner syndrome (TS) prevalence and TS-associated cancer and mortality are lacking. Accurate data were estimated from the National Health Insurance Service (NHIS) and the Rare Diseases Registry (RDR) records.
Materials And Methods:
Data on patients with TS who were registered in the RDR between 2007 and 2017 were collected. To estimate TS-associated cancer and mortality risk, the data were compared with data of 1:3 age-matched controls.
Results:
In 2017, 2054 patients with TS were identified from a total population of 26186952 South Korean women; therefore, the prevalence was 7.84 per 100000 persons. TS prevalence across 10-year interval age groups were 11.82, 23.17, 18.37, 10.49, 4.09, and 0.38 for age under 10 years, teenagers, 20s, 30s, 40s, and older than 50, respectively (per 100000 persons). The cancer risk in patients with TS was higher than that of age-matched controls over 5.3 person-years [hazard ratio (HR)=1.82, 95% confidence interval (CI) 1.01-3.27, p=0.045]. Among different types of cancer, thyroid cancer risk in patients with TS was significantly higher than that of age-matched controls (HR=2.78, 95% CI 1.06-7.26, p=0.037). We also observed that TS-associated all-cause mortality risk was higher than that of age-matched controls (HR=3.36, 95% CI 1.59-7.10, p=0.002).
Conclusion:
National prevalence of TS was suggested, and an increased risk of TS-associated thyroid cancer and mortality were observed in this study.
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