ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Cell Metab. 2019 4;29:1363–1375.Mesenchymal stem and/or stromal cells (MSCs) regulate immune system and have been associated with inflammatory and autoimmune diseases. The IGF system is mainly known for its role in the regulation of growth, development and metabolism. A possible role of IGF-I in inflammation has recently been proposed [1, 2], whereas the e...

In Brief: The study established a novel rat model with a clinically relevant PLS3 mutation, which replicates the osteoporotic phenotype of early-onset PLS3-related osteoporosis. The findings suggest that treatment with alendronate or teriparatide improves bone mass and microarchitecture, suggesting their potential as effective treatments for early-onset osteoporosis caused by PLS3 mutations.Commentary: This study is an essentia...

Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. PMID: 34663987.Brief Summary: This clinical study characterised the spectrum of novel diabetes phenotypes due to mutations in the Transcription factor One Cut Homeobox 1 (ONECUT1)/hepatocyte nuclear factor 6 (HNF6). The study uncovers novel forms of diabetes mellitus due to mutations in ONECUT1.<p cl...