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ey0018.3-10 | Congenital hypothyroidism | ESPEYB18

3.10. Cognitive and motor outcome in patients with early-detected central congenital hypothyroidism compared with siblings

JC Naafs , JP Marchal , E Fliers , PH Verkerk , MAJ Luijten , A Boelen , ASP van Trotsenburg , N Zwaveling-Soonawala

J Clin Endocrinol Metab. 2021;106:e1231e1239. doi: 10.1210/clinem/dgaa901.The results of this study are a robust argument to implement neonatal screening for central congenital hypothyroidism (CCH) worldwide. Only few countries, such as the Netherlands, screen for CCH. Neurodevelopmental outcome data are scarce for CCH compared to primary congenital hypothyroidism (PCH) not only becau...

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ey0016.3-10 | New Genes | ESPEYB16

3.10. Mutations in IRS4 are associated with central hypothyroidism

CA Heinen , EM de Vries , M Alders , H Bikker , N Zwaveling-Soonawala , Akker ELT van den , B Bakker , G Hoorweg-Nijman , F Roelfsema , RC Hennekam , A Boelen , Trotsenburg ASP van , E Fliers

To read the full abstract: J Med Genet. 2018;55:693700.This genetic study identified, by whole exome sequencing, mutations in the insulin receptor substrate 4 gene (IRS4) in 5 families with isolated central congenital hypothyroidism. Thus, the authors add a fifth genetic cause of isolated congenital hypothyroidism to the previously known genes: TSHB, TRHR, IGSF1, ...

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ESPE Yearbook of Paediatric Endocrinology

3.10. Cognitive and motor outcome in patients with early-detected central congenital hypothyroidism compared with siblings

3.10. Mutations in IRS4 are associated with central hypothyroidism

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