ESPE Yearbook of Paediatric Endocrinology

Cell metabolism 2022;34(2):329-45.e8. doi: 10.1016/j.cmet.2021.12.016Brief Summary: In a mouse model, time of exercise during the day was found to determine the magnitude and type of metabolic response. Different tissues responded to exercise at different times of the day.Comment: Exercise is considered a vital intervention in the prevention and treatment of individu...

To read the full abstract: J Clin Invest. 2020;130(5):2209–2219. doi: https://pubmed.ncbi.nlm.nih.gov/31961826/This clinical study addressed the chronic effects of the β3-adrenergic receptor agonist mirabegron on BAT activity, blood parameters, and insulin sensitivity in a small cohort of healthy women (n =14). Participants were treated for 4 weeks orally with mirabegron ...

To read the full abstract: Science 2020; 367(6484):eaay5012.These authors sequenced 929 whole-genome sequences from 54 geographically, linguistically, and culturally diverse human populations, as part of the Human Genome Diversity Project, a panel of global populations. The data represent African, Oceanian, and American-Indian populations. They identified 67.3 million single-nucleotide polymorphisms (SNPs), 8.8 million small insertions or deleti...

Abstract: Lancet. 2019 May 16.In brief: In a randomised, active-controlled, open-label, phase 3 trial, burosumab (an anti-FGF23 antibody) demonstrated significantly greater clinical improvements in rickets severity, growth, and biochemistries among children with X-linked hypophosphataemia compared with continuation of conventional therapy with oral phosphate and active vitamin D ...

To read the full abstract: Nature. 2019 May;569(7756):409–412.A Denisovan mandible, identified by ancient protein analysis, was found on the Tibetan Plateau. It is at least 160,000 years old and provides direct evidence of the Denisovans outside Siberia.The enigma of the archaic Denisovan started in 2010 when a fraction of a finger was discovered in the D...

To read the full abstract: Cell. 2018 Dec 13;175(7):1756–1768.e17.Irisin, a cytokine secreted by muscle during exercise, effects bone resorption and the differentiation of preadipocytes into thermogenic brown fat cells by displacing tethers between the cell and extracellular matrix molecules. Physical activity can reverse age-dependent decline in skeletal muscle, preventing osteopor...

To read the full abstract: Cell 2017;170:199-212 e20T2DM has a disproportionate impact on persons of Latin American descent. GWAS in Mexican and other Latin American samples identified a haplotype containing four missense SNPs, all in SLC16A11, that were much more common in individuals with Native American ancestry than in east Asian, European and African samples. The association was stronge...

In Brief: This comprehensive genome-wide association study (GWAS) identified over 20 000 loci associated with adult height. This groundbreaking research revealed that up to 21% of the human genome can be linked to variation in human height, providing a deeper understanding of the complex regulation of human height.Commentary: This one of the largest GWAS to date involving 5.4 million individuals. It discovered 12 111 independent SNPs associated with adul...

Brief summary: In this in vivo study, Xia et al. demonstrate that AAV-mediated gene therapy recovers testosterone levels, restarts sexual development, restores spermatogenesis, and produces fertile offspring in a mouse model of Leydig cell failure (LCF).A null mutation in the gene encoding luteinizing hormone/choriogonadotrophin receptor (Lhcgr) causes a hereditary LCF in mice which is characterized by a reduction in testosterone levels...

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.<...