ESPE Yearbook of Paediatric Endocrinology

Bone Miner Metab. 2021 Sep;39(5):851-857Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34115219/In brief: Vitamin D plays a pivotal role in calcium homeostasis and bone health; a question is therefore frequently raised regarding the risk of fractures in children with vitamin D deficiency. This is more pertinent in safeguarding cases where it is not uncommon to fin...

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...

Program Collaborators for Environmental Influences on Child Health OutcomesJAMA Netw Open. 2022 Feb 1;5(2):e2146873. doi: 10.1001/jamanetworkopen.2021.46873. PMID: 35119461https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2788643/Brief Summary: This study describes the correlation between...

To read the full abstract: JAMA. 2019;322(6):514–523. doi: 10.1001/jama.2019.10329Some children have a high genetic risk to develop type 1 diabetes (T1DM) and/or celiac disease. However, environmental factors may modify such risks. One arm of the TEDDY study assessed the influence of high gluten intakes on the development of celiac disease in genetically high risk children.<p clas...

Brief summary: This collaborative study identified 13 monoallelic rare loss-of-function (LoF) variants in the serotonin 2C receptor (HTR2C) gene in 19 unrelated individuals with hyperphagia, severe early-onset obesity, and some degree of maladaptive behaviour. The authors used exome sequencing in 2548 individuals with severe obesity and 1117 control individuals without obesity. They found that HTR2C variants cause monogenic obesity by demonstrating t...