ESPE Abstracts (2016) 86 P-P1-888

ESPE2016 Poster Presentations Thyroid P1 (48 abstracts)

“Semi-Hot” Thyroid Nodules Associated with GNAS Mutations in Three Adolescents

Anne Sophie Lambert a , Danielle Rodrigue a , Jean François Papin b , Agnès Linglart a & Pierre Bougnères a

aPediatric Endocrinology, Bicêtre, France; bORL, Bicêtre, France

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 12–16). 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.

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