ESPE Yearbook of Paediatric Endocrinology

Brief summary: This longitudinal UK cohort study examined the prospective associations between objectively measured physical activity, independently of BMI, and pubertal timing in boys and girls.This large study analyzed device-measured physical activity and its intensity in relation to puberty timing, using accelerometers worn on the right hip. A previous meta-analysis reported that female athletes had later age at menarche than non-athletes (1), but it...

To read the full abstract: PLoS Genet. 2020;16:e1008770.Præstholm et al. quantified by a genomics approach histone H3 acetylation – an epigenetic mark for DNase accessible chromatin – at thyroid hormone target gene enhancers to challenge the current model of genome binding action of T3 (type 1 action of thyroid hormone receptors (TR)) [1]. For this, they investigated genome-wide the liver of WT mice at hypothyroid and hyp...

To read the full abstract: Endocrinology vol. 161,2 (2020): bqz041. doi: https://academic.oup.com/endo/article/161/2/bqz041/5698115This mouse study demonstrates the influence of maternal nutrition during lactation on offspring gut microbiota and its consequences on metabolism and puberty timing. Childhood obesity is a risk factor for the deve...

J Bone Miner Res. 2021 Aug;36(8):1594-1604.Abstract: https://pubmed-ncbi-nlm-nih-gov/33900645/In Brief: Enzyme replacement therapy with human ENPP1-Fc protein in Enpp1asj/asj mice, a murine model of ENPP1 deficiency, restored circulating levels of PPi, prevented clinical manifestations and decreased mortality.Commentary: ENPP1 deficiency causes gen...

Lancet Public Health 2018;3:e419–e428.DOI 10.1016/S2468-2667(18)30135-XURL: http://www.ncbi.nlm.nih.gov/pubmed/30122560Summary: The long-term effects on health outcomes of dietary carbohydrate intake was investigated in a large prospective cohort of 15,428 US adults aged 45–64 years with 25 years foll...

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....

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa131. doi: 10.1210/clinem/dgaa131. PMID: 32170311Genetic control of height has been widely explored using genome-wide association studies (GWAS) in multi-ethnic populations (1-4). Although familial short stature (FSS) is the most common type of short stature, its genetic profile and impact on bone metabolism remains to be investigated. This GWAS...

Genet Med. 2021 Oct;23(10):1944-1951. doi: 10.1038/s41436-021-01237-3. Epub 2021 Jun 30. PMID: 34194003Brief Summary: This genetic and developmental study identified pathogenic mutations in GBP1in patients with congenital hypothyroidism investigated by exome sequencing. In the zebrafish model, knockdown experiments revealed hypothyroidism and disordered thyroid morphology. These d...

Sci Adv. 2022; 8(16): eabn8485. PMID: 35442744https://pubmed.ncbi.nlm.nih.gov/35442744/Brief Summary: This histologic and transcriptomic study of human and primate adrenal tissue samples provides a molecular framework to understand the fetal development of the adrenal gland.The adrenal cortex is the major source of steroid hormones that drive a plethora of critical ph...

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...