hrp0095p1-189 | Thyroid | ESPE2022

Resistance to Thyroid Hormone β in an infant with a novel de novo mutation of the THRB gene

Sertedaki Amalia , Dolianiti Maria , Sakka Sofia , Siahanidou Sultana , Kanaka-Gantenbein Christina

Introduction: Resistance to Thyroid Hormone (RTH) is a clinical syndrome characterized by impaired end-organ responsiveness to Thyroid Hormone (TH). The cardinal features of this syndrome are elevated serum levels of free THs with normal or high TSH, often with goiter and no clear symptoms of thyrotoxicosis. Mutations in the Thyroid Hormone Receptor beta (THRB) gene constitute the most frequent cause of RTH, defined as RTH╬▓.<p class="abstext"...

hrp0097fc12.4 | Thyroid | ESPE2023

Thyroid hormone resistance due to THRB gene mutations: neonatal manifestations in two cases

Labey Séverine , Savagner Frédérique , Rideau Aline , Sertedaki Amalia , Dolianiti Maria , Sakka Sofia , Siahanidou Sultana , Léger Juliane , Carel Jean-Claude , Kanaka-Gantenbein Christina

Introduction: Thyroid hormone resistance (THR) is a rare disease (&ap; 1/50000) mainly due to thyroid hormone receptor beta gene (THRB) mutations, generally identified in late childhood and adulthood. We report 2 atypical cases of neonatal diagnosis of THR.Case 1: The newborn presented with neonatal respiratory distress due to a voluminous compressive goiter, requiring invasive ventilation. Thyroid function test...