Population Prevalence, Cancer Risk, and Mortality Risk of Turner Syndrome in South Korean Women Based on National Health Insurance Service Data

Abstract

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.

Effects of Hormone Replacement Therapy on Bone Mineral Density in Korean Adults With Turner Syndrome

“…Clinically, TS is characterized by short stature and sexual infantilism and is accompanied by systemic disorders in major organs such as heart and kidney, with a high incidence of autoimmune diseases, osteoporosis, and bone fractures. 2 3 4 5 6 Unlike normal oocyte decline that continues for decades, it occurs within several months or years after birth in TS patients. Therefore, ovaries degenerate during the fetal stage, childhood, or adolescence and as a result, only 10–30% of TS patients undergo puberty naturally.…”

Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project

“…There is a lack of studies specifically focusing on cancer risk during the transition age in TS, with existing information primarily derived from large-scale population-based studies, which encompass patients within the transition age range [ 46 – 50 ]. Standardized incidence ratios range from 0.9 to 1.82, with increased risk of benign central nervous system tumors and skin neoplasms, and a reduced risk for breast cancer [ 46 – 50 ].…”

“…There is a lack of studies specifically focusing on cancer risk during the transition age in TS, with existing information primarily derived from large-scale population-based studies, which encompass patients within the transition age range [ 46 – 50 ]. Standardized incidence ratios range from 0.9 to 1.82, with increased risk of benign central nervous system tumors and skin neoplasms, and a reduced risk for breast cancer [ 46 – 50 ]. HRT and growth hormone treatments do not seem to affect overall cancer risk, including breast cancer, in females with TS, however, it is important to closely monitor for specific types of tumors such as thyroid carcinoma, meningioma and skin tumors (Statement B9) [ 49 ].…”

Case Report: Solid variant of papillary thyroid carcinoma in a young adult with Turner syndrome with chronic thyroiditis

“…In previous studies, thyroid nodules were detected in 13−18.8% of patients in the ultrasound follow-up of chronic thyroiditis, and PTC was observed in 10.3−22.5% of those with nodules (19,20,26). Chronic thyroiditis has been suggested to be related to thyroid malignancy, including PTC, but the exact mechanism remains Frontiers in Oncology frontiersin.org unclear (5). Related to endocrine disorders, some patients with PTC with TS have a history of GH treatment (1, 7, 8), including the patient of the present study.…”

“…Individuals with TS are at an increased risk of developing multiple neoplasms (3-5). Approximately 1.3 -4.8% of patients with TS have some kind of neoplasms (5,6). Patients with TS have a two-to five-Frontiers in Oncology frontiersin.org 01…”