ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Pediatr Endocrinol Metab 2018; 31(6):601-608This article summarizes the findings of likely the largest program of neonatal congenital hypothyroidism (CH) screening in the world. This is a truly impressive effort. The overall incidence of CH was 1/2421, in line with other reports that also observed a relatively high incidence of CH in neonates born in Asia. However, a...

Brief summary: In 2021 and 2022, two important publications on pediatric thyroid carcinomas revealed a distinct molecular landscape compared to adult thyroid carcinomas (1,2). Pediatric differentiated thyroid carcinoma was mainly caused by fusion oncogenes, especially in children younger than 10 years (93%), compared to children aged 10–15 years (28%) and 15–20 years old patients (14%). In contrast, PTC due to BRAF mutations showed increasing frequency with age (7%, ...

Brief summary: Using human induced pluripotent stem cells as well as transgenic mouse models, this paper shows that MKRN3 could initiate pubertal onset by regulating hypothalamic development and plasticity.The reactivation of GnRH secretion at puberty is thought to result from a loss in inhibitory input together with an increase in transactivation onto GnRH neurons. The main component of this inhibitory tone was incompletely understood until the discover...

Genet Med. 2021 Oct;23(10):1944-1951. doi: 10.1038/s41436-021-01237-3. Epub 2021 Jun 30. PMID: 34194003Brief Summary: This genetic and developmental study identified pathogenic mutations in GBP1in patients with congenital hypothyroidism investigated by exome sequencing. In the zebrafish model, knockdown experiments revealed hypothyroidism and disordered thyroid morphology. These d...