ESPE Abstracts

Objective: To assess the characteristics of thyroid nodules among infants diagnosed with congenital hypothyroidism and to discuss the interest of a systematic screening.

Material and method: A retrospective study of children with congenital hypothyroidism due to dyshormonogenesis was carried out at the pediatric endocrine center in Kremlin Bicêtre hospital, Paris, between 1999 to 2020. A screening ultrasound for thyroid nodules was then performed from July 2019 to July 2020 if no if no recent analysis was found (>3 years).

Results: 78 patients were included with median age of 14 years [8-21]. The cause of hypothyroidism was disorder of iodine organification in 50/78 patients, disorder of iodine uptake in 3/78, disorder of thyroglobulin synthesis in 7/78, and unclassifiable in 18/78 patients. 42/78 patients were supplemented with L-thyroxine. 10 Nodules and 1 multinodular goiter were detected In 8 and 1 patient respectively during follow-up (median average of 2.5 [1-3] and median size of 17 mm [5-37]). 1/10 nodule was classified TI-RADS2, 5/10 TI-RADS 3 and 4/10 TI-RADS 4. Fine needle aspiration biopsy were realised in 3 patients, and 5 had thyroidectomy. Diagnosis was thyroid cyst in 6/10 patients, Follicular lesion in 1/10, papillar carcinoma in 2/10 (1/2 patient with TPO gene mutation) and 1 multinodular thyroid.

Conclusion: The prevalence of thyroid cancer in our pediatric population is 2.5%, the prevalence of nodules is 7.6% including 20% of malignant nodules. Thyroid cancer occur in younger patients in the context of dyshormonogenesis. Given the importance of this pathology in patients with dyshormonogenesis, we recommend a regular ultrasound follow-up at least every 3 years, as well as a systematic genetic analysis at diagnosis to identify possible pathogenic variants.