hrp0094fc10.4 | Thyroid | ESPE2021

Towards a novel genetic model for Congenital Hypothyroidism due to thyroid dysgenesis

Stoupa Athanasia , Jabot-Hanin Fabienne , Kariyawasam Dulanjalee , Quoc Adrien NGuyen , Hanein Sylvain , Bole-Feysot Christine , Nitschke Patrick , Polak Michel , Carre Aurore ,

Background: Congenital hypothyroidism (CH) affects one in 3000 children at birth. In 65% of cases, CH is due to thyroid dysgenesis (CHDT). For CHDT, there is a family component and therefore genetic. Over the past 20 years, disease-causing mutations in 10 genes have been implicated in CHDT cases (NKX2-1/TTF1, FOXE1/TTF2, NKX2-5, PAX8, GLIS3, NTN1/Netrin-1, JAG1, BOREALIN/CDCA8, TUBB1</...