hrp0095p1-397 | Thyroid | ESPE2022

Molecular Diagnosis of Non-Autoinmune Subclinical Hypothyroidism in Paediatrics

Gonzalez-Llorens Nuria , Antolin Mate Maria , Clemente Leon Maria , Campos Martorell Ariadna , Mogas Viñals Eduard , Soler Colomer Laura , Tomasini Rosangela , Gonzalez-Morla Judith , Murillo Valles Marta , Aguilar Riera Cristina , Casano Sancho Paula , Bosch Muñoz Jordi , Escuer Morell Mercè , Ortigosa Gomez Sandra , Hernandez-Herrero Maria , Feliu Rovira Albert , Camats-Tarruella Nuria , Baz-Redon Noelia , Fernandez-Cancio Monica , Yeste Fernandez Diego

Introduction: Subclinical hypothyroidism (SH) is a biochemical condition characterized by serum levels of TSH above the reference range upper limit (4,5μUI/mL), with normal concentrations of thyroid hormones. In cases of non-autoimmune subclinical hypothyroidism (NASHT), genetic defects have been described and can determine disorders in the biosynthesis process of thyroid hormones, such as heterozygous mutations in the TSH receptor gene (TSHR) and ...