ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2019;104:5765–5779.It is not clear whether retesting is needed for a healthy cotwin of a twin pair discordant for congenital hypothyroidism (CH) at the first neonatal screening. Medda et al. retrospectively analyzed a cohort of 47 twin pairs discordant for CH at the first neonatal screening. On follow-up, 7 (15%) of cotwins who were initially negatively screened then tested positi...

To read the full abstract: Thyroid. 2019;29:790–801.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...

To read the full abstract: J Biol Chem. 2020;295:6876–6887.In this experimental study, Morishita et al. developed a CRISPR/Cas-9 mediated cell model to investigate the molecular effects of thyroglobulin (TG) accumulation in the endoplasmatic reticulum (ER) of thyrocytes, as is observed in the context of dyshormonogenic CH caused by TG gene mutations. TG accumulation in the ER is a result of TG mutations altering t...