Endocrine Abstracts

Background: Many questions concerning Turner Syndrome (TS) remain unresolved, such as the long-term complications and, therefore, the optimal care setting for adults. Most controversials regard tumors. Very few data are available on thyroid carcinoma and no specific screening protocol of monitoring is advised in the current official guidelines. This long-term cohort study was primarily aimed at estimating the incidence and time to comorbid conditions along the life course, including thyroid carcinoma and tumors in general.

Methods: The study cohort consisted of 160 TS women, the vast majority recruited during childhood (mean age= 9.4 years, median=9 years, IQR 2-16) and followed up for a median of 27 years (IQR 12-42) at the S. Orsola University Hospital of Bologna using the same multidisciplinary monitoring protocol (including thyroid ultrasound every one to two years). The last follow-up was carried out for all patients in December 2019.

Results: Autoimmune diseases (such as Hashimoto’s thyroiditis, celiac disease and autoimmune polyendocrine syndrome) were the comorbidities with the highest incidence (61.2%), followed by osteoporosis and hypertension (23.8% for both), then by type 2 diabetes (16.2%) and by tumors (15.1%). Median age of onset ranged from 22yrs for autoimmune diseases to 39yrs for type 2 diabetes. Malignant tumors (including thyroid carcinoma, renal cell cancer, skin cancer, breast cancer, ovarian cancer and central nervous system tumors) were the most prominent form of neoplasms, with a cumulative incidence of 11.9% and an incidence rate of 0.44 per 100 person-year. Thyroid carcinoma (histologically all papillary -PTC- in our cohort) was the most common form of cancer with a cumulative incidence of 5% and an incidence rate of 0.56 per 100 person-year (incidence rate of 0.037 per 100 person-year in a cohort of Italian women of similar age range). Median age of onset of PTC was 28.9yrs. No association with a specific karyotype of the TS was observed.

Conclusions: These findings demonstrate that TS patients are at risk of developing thyroid carcinoma, particularly the papillary form, thus suggesting, differently from current practice, the need to include thyroid ultrasonography within the structured follow-up protocol of this syndrome.