Searchable abstracts of presentations at key conferences in endocrinology

ea0090p797 | Thyroid | ECE2023

Congenital Hypothyroidism and Thyroid dyshormonogenesis: Clinical features and genetic findings

Mkaouer Samir , Haj Kacem Akid Faten , Ayadi Younes , Belabed Wafa , Khochtali Rihab , Noura Bougacha , Rim Chaaben , Ben Salah Dhoha , Abid Mohamed

Introduction: Thyroid dyshormonogenesis represents 15% of congenital hypothyroidism. It is a genetic disorder due to a trouble of Thyroid hormones synthesis. it implies many factors involved in this process mainly TPO Enzyme and NIS channel.Methods: We conducted a prospective study including 17 patients with Congenital Hypothyroidism belonging to 4 consanguine multigenerational Tunisian families. The thyroid dyshormonogenesis was diagnosed based on clini...