Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency.We did an international, multicentre, cohort study, analysing retrospective...