ESPE Yearbook of Paediatric Endocrinology

Brief summary: This study investigates the effect of long-acting synthetic glucocorticoids on circadian rhythmicity and hippocampal functionGlucocorticoids exert their effects by binding to glucocorticoid receptors (GRs), which regulate up to ~20% of the genome via both direct (by binding to glucocorticoid responsive elements in promoter regions) and indirect mechanisms (by interacting with bound transcription factors and epigenetic modifiers) (1...

Brief summary: In this experimental study, a transdermal polymeric microneedle (MN) patch for glucose-responsive closed-loop insulin and glucagon delivery was developed. In chemically-induced type 1 diabetes (T1D) mouse and minipig models, this glucose-responsive dual-hormone MN patch demonstrated tight regulation in blood glucose.The interplay between insulin and glucagon is essential for blood glucose regulation in individuals with or without diabetes....

Brief summary: This study evaluated the ability of genetic risk scores to predict severe obesity in adult survivors of childhood cancer. Data from 2548 survivors of European ancestry from the St. Jude Lifetime Cohort Study was analyzed and findings were validated in 6064 survivors from the Childhood Cancer Survivor Study. Survivors with higher genetic risk scores had significantly higher odds of severe obesity. Adding genetic risk scores to prediction models that included canc...

Brief summary: This study describes the genetic and clinical characteristics of 3βHSD2 deficiency in children seen at a single center in Algeria. It describes clinical outcomes, including the frequency of adrenal rest tumors in this population.3β-hydroxysteroid dehydrogenase 2 deficiency (3βHSD2) is a rare form of congenital adrenal hyperplasia. This mixed longitudinal and cross-sectional study was performed in a single Algerian center bet...

J Clin Endocrinol Metab. 2021 Mar 25:dgab190. doi: 10.1210/clinem/dgab190. PMID: 33765130. https://academic.oup.com/jcem/article-abstract/106/7/e2557/6188450?redirectedFrom=fulltextIn brief: This multicentre cohort study explores the frequency, long-term outcomes and potential p...

Brief summary: In this experimental study, genome editing and in vitro pancreatic differentiation of human pluripotent stem cells (SC) were used to generate ZNT8 loss-of-function (LOF) SC-β-cells. These cells showed accelerated functional maturation, increased insulin secretion and improved resistance to metabolic stress. Transplantation of ZnT8 LOF SC-β-cells into mice with preexisting diabetes significantly improved their glucose levels.<...

Cardiovasc Diabetol. 2020 Oct 6;19(1):168. 10.1186/s12933-020-01143-z. PMID: 33023586.In brief: The impact of immigration on the risk of early-onset T2DM (before age 40 years) was assessed in a nationwide cohort. Data on 93 806 native Israelis and 27 684 Israelis of Ethiopian origin, assessed at a mean age 17.5 years, were linked to the Israeli National Diabetes Registry. After adjustment fo...

Nat Metab. 2021 Feb;3(2):228–243. doi: 10.1038/s42255-021-00346-2. PMID: 33619380.In brief: In this genome-wide association study, the authors were able to disentangle the mechanism that uncouples adiposity from its known cardiometabolic complications. They identified 62 genomic loci, at which the same allele is associated with both higher adiposity and lower cardiometabol...

J Clin Oncol. 2022 Apr 1;40(10):1081-1090. doi: 10.1200/JCO.21.01861. Epub 2022 Jan 11. PMID: 35015563Brief Summary: This retrospective monocenter study of clinical, pathological and molecular analysis of n=113 children with differentiated thyroid cancer (DTC) showed that genetic analysis of DTC provided more accurate information on prognosis and outcome than classical histological categorizatio...

J Clin Endocrinol Metab, 2021. 106(11): p. 3184-3195. PMID: 34272849Brief Summary: This randomized, open-label, controlled, phase 3 trial compared the effects of once-weekly long-acting GH lonapegsomatropin versus daily GH in GHD children over a period of 52 weeks. Efficacy was evaluated by height velocity (HV) and height gain from baseline to end. The long-acting formulation showed not only non-inferiority but also superior efficacy compared to...