Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations

Stoupa, Athanasia; Chaabane, Rim; Guériouz, Manelle; Raynaud-Ravni, Catherine; Nitschke, Patrick; Bole-Feysot, Christine; Mnif, Mouna; Ammar Keskes, Leila; Hachicha, Mongia; Belguith, Neila; Polak, Michel; Carré, Aurore

doi:10.1089/thy.2017.0502

Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations

Background: Primary congenital hypothyroidism (CH) affects about 1:3000 newborns worldwide and is mainly caused by defects in thyroid gland development (thyroid dysgenesis [TD]) or hormone synthesis. A genetic cause is identified in T, p.S292F) was found in the Tunisian patient with severe thyroi…