ESPE Yearbook of Paediatric Endocrinology

Brief summary: Using in-depth multi-omics analyses of human type 1 diabetes (T1D) samples, the authors profiled gut microbial functional and metabolic alterations. The T1D microbiota showed decreased butyrate production and bile acid metabolism and increased lipopolysaccharide (LPS) biosynthesis. Fecal microbiota transplantation in animal models proved that T1D gut microflora is a causative factor in the regulation of glucose metabolism.The etiology of T...

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.<...

Brief Summary: Artemisinins, compounds known for their antimalarial properties, suppress ovarian androgen synthesis by promoting degradation of cytochrome P450 11A1 (CYP11A1). Hence, they are a promising new approach for preventing and treating PCOS.Comment: Polycystic ovary syndrome (PCOS), characterized by hyperandrogenism, chronic anovulation, and insulin resistance, is one of the most common reproductive endocrinopathies, affecting ~8-18% of reproduc...

Brief Summary:This study assembled a single-cell transcriptomic atlas representing over 2.3 million cells from 17 tissues in mice. Investigations of the scRNA-seq data focussed on effects of sex and androgens on the molecular programs and cellular populations in female and male mice as well as male androgen-deprived, and female androgen-treated mice. Data were then used to gain novel molecular insight into sex-related human disorders as available in the UK Biobank study.<p...

J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa633. doi: 10.1210/clinem/dgaa633. PMID: 32898218.In this study, low risk pregnant women had an ‘early’ OGTT at 18-20 weeks of gestation and these results were correlated with the standard OGTT at 24-28 weeks. Pregnant women with Gestational diabetes mellitus (GDM) who had early OGTT still had a higher risk of delivering macrosomic in...

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...

kirsty.spalding@ki.se Nat Med 2021; 27(11): 1941–1953 doi: 10.1038/s41591-021-01501-8Brief Summary: This study analysed adipocytes from obese and hyperinsulinemic adults. They demonstrate that obesity is associated with the induction of a cell cycle program in mature adipocytes, leading to so-called endoreplication, as a strategy to remain fu...

Cell Rep. 2022 Jan 25;38(4):110298. doi: 10.1016/j.celrep.2022.110298Brief Summary: This study describes the cryo-EM structure of human ATP Binding Cassette Subfamily G Member 1 (ABCG1) in complex with cholesterol. The authors propose a structural mechanism whereby cholesterol is recruited from cell membranes by sphingomyelin and loaded on nascent HDL particles.ABC...

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: PLoS Med. 2019 Oct 1;16(10):e1002926. doi: 10.1371/journal.pmed.1002926.The authors analysed a huge dataset from the Chinese national programme of preconception health checks, which include measurements of fasting plasma glucose. Overall, 13.15% (n =847,737) had impaired fasting glucose and 1.18% (n =76,297 women) had diabetes, of whom only...