hrp0094p1-200 | Thyroid B | ESPE2021

Functional studies of PAX8 gene variants in patients affected by congenital hypothyroidism with eutopic thyroid gland

Camats Nuria , Baz-Redon Noelia , Fernandez-Cancio Monica , Clemente Maria , Campos-Martorell Ariadna , Antolin Maria , Soler Laura , Yeste Diego ,

Introduction: Thyroid dyshormonogenesis is a heterogeneous group of hereditary diseases produced by the total/partial blockage of the biochemical processes involved in thyroid-hormone synthesis and secretion. Many genes are involved in this process. PAX8 is a transcription factor essential for thyroid-gland morphogenesis and synthesis of thyroid hormones, since it activates TG, TPO and TSHR gene transcription. More than 50 PAX8</...