ey0017.3-7 | Congenital hypothyroidism | ESPEYB17
C Peters
, AK Nicholas
, E Schoenmakers
, G Lyons
, S Langham
, EG Serra
, NJ Sebire
, M Muzza
, L Fugazzola
, N Schoenmakers
To read the full abstract: Thyroid. 2019;29:790801.Patients with mutations in the dual oxidase 2 (DUOX2 ) gene encoding a NADPH oxidase that generates hydrogen peroxidase for iodide organification have been repeatedly reported as not being detected by neonatal screening because it causes only mild hyperthyrotropinemia at birth. Here, Peters et al. determined the incidence of DUOX2 and dual oxidase 2...