ESPE Yearbook of Paediatric Endocrinology

Nat Commun. 2021 Jan 11;12(1):256. doi: 10.1038/s41467-020-20511-7. PMID: 33431871.These authors report two Mll4 mutant mouse models that exhibited dwarfism and altered development of GHRH−neurons.Inactivating mutations in KDM6A (aka UTX) or KMT2D (aka MLL4) genes result in Kabuki syndrome (KS), whose hallmarks in...

Transl Psychiatry. 2022; 12(1): 132. PMID: 35354798https://pubmed.ncbi.nlm.nih.gov/35354798/Brief Summary: This case control study identified widespread effects of fetal exposure to antenatal maternal glucocorticoid treatment on newborn bloodspot DNA methylation profiles.Antenatal treatment with glucocorticoids (AGC), such as betamethasone or dexamethasone, is widely u...

To read the full abstract: Nat Commun. 2019 Aug 16;10(1):3696. doi: 10.1038/s41467-019-11667-y. PMID: 31420539.The hypothalamic arcuate nucleus (ARC) controls crucial physiological processes, such as growth, reproduction and energy homeostasis. However, it is unknown how ARC neurons gain their unique cellular identities and what are their developmental relationships. Here, the authors i...

To read the full abstract: Nature 2017;548:413-419Over recent years, the Yearbook has followed the rapid advances in CRISPR-Cas9 gene editing technology, initially as a widely adopted research tool, but also as an emerging form of gene therapy. Here, Ma et al. report the first use of CRISPR–Cas9 to efficiently and safely correct a pathogenic heterozygous mutation in human embryos. The...

Brief summary: A significant increase in the incidence T2D occurred in the USA during the COVID-19 pandemic, particularly among children with obesity and males.Comment: This is the first multicenter report on the incidence of T2D during the first year of the COVID-19 pandemic in the USA. The average number of new diagnoses per year in the two pre-pandemic years was 825, compared with 1463 during the first pandemic year. This increase of 77% is significan...