Background: Hot thyroid nodules are uncommon in children and adolescents. Hyperfunctioning adenoma do not always produce hyperthyroidism, but can precede the apparition of a truly toxic adenoma. Autonomous adenoma can be associated with mutations of TSH-R and some mutations of GNAS.
Patients: Patient 1 presented mild clinical hyperthyroidism. Patients 2 and 3 were asymptomatic and had clinical euthyroidism. Examination revealed a unique isolated thyroid nodule in the 3 patients (30.5, 30, 31 cm diameter). Café-au-lait spots were present in Patient 1. TSH was undetectable. FT3 was 7. 10. 13 pmol/l (N<6.5). FT4 was 18, 18.3, 18.5 pmol/l (N 1216). Ultrasonography showed encapsulated nodules with increased vascularity in all 3 patients. Radionuclide scintigraphy showed hyperfunctioning nodules with absent uptake in the surrounding tissues in 2/3 and decreased uptake in 1/3. Partial thyroidectomy was performed in 3/3 patients. Molecular examination revealed GNAS mutations in the 3 patients. Postoperative period was uneventful.
Conclusion: Mild hyperthyroidism or thyroid palpation in asymptomatic patients can reveal hyperfunctioning nodules as the seemingly unique manifestation of GNAS mutations.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology