The Clinical and Molecular Characterization of Patients With Dyshormonogenic Congenital Hypothyroidism Reveals Specific Diagnostic Clues for DUOX 2 Defects

Department of Clinical Sciences and Community Health (M.M., V.C., M.A.M., P.B.-P., L.F.), University of Milan, and Endocrine Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Ca’ Granda, 20122 Milan, Italy; Department of Pediatrics (S.R., M.C.V., I.Z., K.M., G.W.), San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 21032 Milan, Italy; Department of Clinical Sciences and Community Health (L.P.), University of Milan, Milan, and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, 20149 Milan, Italy; Department of Pediatrics (L.B.), A. Manzoni Hospital, 73100 Lecco, Italy; Metabolic Research Laboratories (N.S.), Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, United Kingdom; Department of Pediatrics (F.G.), Perrino Hospital, 72100 Brindisi, Italy; and Department of Clinical Genetics (S.-M.P.), Addenbrooke’s Hospital, Cambridge CB2 0QQ, United Kingdom