ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This study explored the potential causal pathways underlying the association between childhood-onset T1D and subsequent psychiatric disorders, using data from a Czech national register of 4,500 children (age ≤14 years) with type 1 diabetes (T1D) and large-scale European genetic studies. Children diagnosed with T1D had an elevated risk of developing substance use, mood, anxiety and personality disorders, and behavioural syndromes. In contrast, they had a lo...

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...

J Cell Rep. 2021 Mar 23;34(12):108862. 10.1016/j.celrep.2021.108862. https://pubmed.ncbi.nlm.nih.gov/33761344/This study demonstrates that MC4R variants found in humans affect receptor endocytosis, trafficking and dimerization and thus reveal multiple cellular mechanisms involved in weight regulation. The findings contributes to our und...

To read the full abstract: N Engl J Med. 2019 Jul 4;381(1):25–35.In brief: Inhibition of endochondral ossification in Achondroplasia leads to disproportionate short stature. In this phase 2 study, daily subcutaneous injection of vosoritide, a biologic analogue of C-type natriuretic peptide and a potent stimulator of endochondral ossification, results in sustained increase in t...

To read the full abstract: J Bone Miner Res. 2020 Apr 24. doi: https://pubmed.ncbi.nlm.nih.gov/32329913/In brief: Hematopoietic stem cell transplantation remains the only curative treatment in children with severe osteopetrosis. According to this study, increased serum calcium and phosphate serve as good markers of successful engraftment, which leads to significant but incomplete n...

Brief Summary: This study was based on the HAPO prospective birth cohort, which has previously generated several publications on maternal gestational diabetes in relation to neonatal anthropometry and childhood glucose metabolism1,2. It examined if cord blood leptin was positively associated with peripubertal obesity and adiposity, and if this relationship was dependent on maternal BMI, hyperglycemia and/or other maternal factors.This is an im...

Brief Summary: Through a series of experiments in the nonobese diabetic/Ltj mouse model and human β-cells, the authors show that the RANK pathway mediates cytokine-induced β-cell death through RANK-TRAF6 interaction and induction of NF-KB activation. Inhibition of the RANKL/RANK pathway following treatment with osteoprotegerin and denosumab protected β-cells against this cytotoxicity, reduced proinflammatory cytokines in activated T-cells, and reversed T1D in th...

J Clin Endocrinol Metab 2021; 106(5): e2063–e2077.https://pubmed.ncbi.nlm.nih.gov/33527139/The authors report the findings of a 6-month, randomized, phase 3 trial, with a single arm extension, to investigate the efficacy, safety and tolerability of modified release hydrocortisone (MC-HC) replacement therapy versus standard glucocorticoid replacement therapy in 122 adult patients with c...

To read the full abstract: J Clin Invest 2020;130(4):2001–16.In this study, Perry et al used their well-established animal model of fasted rats to unravel how feeding induces hyperthermia and energy expenditure.They showed that intracerebroventricular injection of leptin normalized fasting induced low plasma epinephrine and norepinephrine levels and body temperat...

To read the full abstract: Science. 2018;362(6411).Here, developmental regulation of deiodinases DIO2 and DIO3 were identified as main regulators of thyroid hormone dependent sequential cone subtype specification in human retinal organoids. Either complete loss of thyroid hormone signaling or non-physiologically high thyroid hormone levels completely suppressed either medium and long wav...