ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2021;106:e1231–e1239. 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...

Eur Thyroid J. 2018;7:225-37. doi: 10.1159/000491388. Epub 2018 Jul 19https://www.ncbi.nlm.nih.gov/pubmed/30374425Diagnosis and treatment of central hypothyroidism are much more complex than for primary hypothyroidism. For the first time, guidelines summarize all the available evidence to provide a thorough state of...

To read the full abstract: J Med Genet. 2018;55:693–700.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, ...