hrp0092p3-269 | Late Breaking Abstracts | ESPE2019

IGSF1 Mutation: Treatment in the Absence of Symptoms?

Castets Sarah , Vergier Julia , Godefroy Alice , Saveanu Alexandru , Collignon Patrick , Brue Thierry , Reynaud Rachel

Introduction: Congenital central hypothyroidism is a rare pathology, whose molecular origin has been identified more frequently since discovery of the role of IGSF1. The natural evolution of central hypothyroidism in patients with mutations is not well known however.Case report: A male infant born at term with a normal birth weight received thyroid function tests in the neonatal period because of symptoms of bra...