ESPE Yearbook of Paediatric Endocrinology

Translational psychiatry 2022;12(1):59. doi: 10.1038/s41398-022-01817-0Brief Summary: This population genetics study explored pairwise genome-wide genetic correlations between neuropsychiatric disorders with insulin-related somatic diseases and traits. There were likely protective effects of obsessive-compulsive disorder and anorexia nervosa on the risks of having MetS, obesity and T2DM; i...

N Engl J Med. 2022 May 19;386(20):1877–1888. doi: 10.1056/NEJMoa2109191.Brief summary: This prospective cohort study leveraged data from the International Childhood Cardiovascular Cohorts (i3C) Consortium, including 42 324 participants at baseline and followed-up over a mean of 35 years, in order to investigate associations between cardiovascular risk factors (CVRF, including body-mass ind...

Nat Metab. 2021;3(4):523-9. doi: 10.1038/s42255-021-00383-x.PubMed ID: 33846643Brief summary: this study of around 1000 adults administered standard breakfast meals and showed wide variability and continuously monitored glucose levels up to 3 h afterwards. Notably, those individuals with lower glucose levels at 2 to 3 h after meals reported higher levels of appetite and consumed hundreds m...

To read the full abstract: J Clin Endocrinol Metab. 2020 Feb 15. pii: dgaa078. doi: 10.1210/clinem/dgaa078. PMID: 32060556.Just another gene implicated in hypopituitarism? Yes, but it is a newish cilopathy gene in the hedgehog pathway. Hedgehog family of polypeptides (Sonic (Shh), Indian (Ihh) and desert (Dhh) hedgehog) are signaling molecules that are needed for many cellular events and pl...

To read the full abstract: Cell 2019;177 (3):59–-607.e9. PMID 31002796.A recent GWAS showed that the heritability of thinness was comparable to that of obesity (1). Some loci showed effects across the entire BMI distribution. This is also true for variants in MC4R. The present study analyzed data on ˜0.5 million people from UK Biobank, with a focus on 61 nonsynonymous var...

To read the full abstract: J Med Genet. 2019 Mar 15. pii: jmedgenet-2018-105714. [Epub ahead of print].Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumours that can arise either from the adrenal medulla (pheochromocytomas, PCC) or from extra-adrenal paraganglia (paragangliomas, PGL). PPGLs are considered to be the most heritable of human tumours with at least...

To read the full abstract: J Rheumatol. 2018; 45(8): 1173In recent years, biologic agents have clearly been shown to be effective in maintaining remission and improving linear growth in children with inflammatory bowel disease and other chronic inflammatory diseases (1–3). This prospective cohort study analyzed growth in 187 patients (143 females, mean age 11±4 years; including...

To read the full abstract: Nature Communications, 2019; 10 (1); 662This paper highlights the brain as a key target for growth hormone (GH) signaling affecting mostly energy conservation. To identify GH response neurons, C57BL/6 mice received intraperitoneal injection of saline or GH and their brains were processed to detect the phosphorylation of pSTAT5 as a marker of GH receptor a...

To read the full abstract: J Bone Miner Res 2018;33(7):1260-1271Osteogenesis imperfecta (OI) is characterized by early-onset skeletal fragility, often short stature, blue sclerae and some other features. OI is caused by mutations in the two genes encoding type I collagen, namely COL1A1 and COL1A2. Some previous reports have indicated that when the mutation involves the C-propeptide cleavage site in e...

To read the full abstract: Crit Care Med. 2017; 45(12): 2078-2088This guideline replaces/updates the 2008 recommendations regarding the diagnosis and management of critical illness-related corticosteroid insufficiency (CIRCI) in adult and pediatric patients. In CIRCI, inadequate glucocorticoid-mediated anti-inflammatory activity is observed in relation to the severity of the critical illne...