ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nat Genet. 2018 Mar;50(3):432-442Maternal obesity is associated with poor outcomes across the reproductive spectrum including infertility, increased time to pregnancy, early pregnancy loss, congenital abnormalities and neonatal complications. Adverse effects are detectable as early as the oocyte and preimplantation embryo stage, and that these early effects may cont...

In Brief: The study established a novel rat model with a clinically relevant PLS3 mutation, which replicates the osteoporotic phenotype of early-onset PLS3-related osteoporosis. The findings suggest that treatment with alendronate or teriparatide improves bone mass and microarchitecture, suggesting their potential as effective treatments for early-onset osteoporosis caused by PLS3 mutations.Commentary: This study is an essentia...

Clin Endocrinol Metab. 2021;106(2):431–441. doi: 10.1210/clinem/dgaa842. PMID: 33205215This study aimed to describe the clinical characteristics of 6 patients with NPR2 gene mutations and the response to rhGH treatment in 2 of them.The natriuretic peptide receptor 2 gene (NPR2) is a paracrine factor involved in the regulation of cell proliferati...

Front Endocrinol 2021; 12:624507. doi: 10.3389/fendo.2021.624507– This systematic review identified 41 Chinese studies totalling 7,853,756 newborns who underwent neonatal CAH screening– The overall incidence of CAH in China was 1/23,024 (95% CI, 1/25,757 to 1/20,815)– Among the CAH patients, the Male:Female ratio was 1.92:1, and 76% presented with salt wasting<p class=...

J Bone Miner Res. 2022 Feb;37(2):179-184.Abstract: https://pubmed-ncbi-nlm-nih-gov/34464000/In Brief: Fibroblast growth factor 23 (FGF23) and parathyroid hormone (PTH) both negatively regulate serum phosphate by increasing renal phosphate excretion. The clinical observation that both PTH and FGF23 are needed for adequate renal phosphate handling is confirmed in this experimental patient stu...

Diabetes research and clinical practice 2022;185:109785. doi: 10.1016/j.diabres.2022.109785Brief Summary: This systematic review estimated 41 600 new incident cases of T2DM in children under age 20 years globally in 2021.Comment: Worldwide estimates of T2DM incidence in children and adolescents under 20 years, both at regional and national levels, were reached by ...

To read the full abstract: Diabetes Care. 2019 Aug;42(8):1473–1480. PMID: 31332028Maternal obesity and gestational diabetes (GDM) increase the risk of offspring developing childhood obesity and type 2 diabetes. The underlying mechanisms and possible neuronal pathways are unknown but might involve changes in the hypothalamic structure and function. Novel non-invasive imaging te...

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...

Cell. 2018; 175(2): 514–29 e20.URL: http://www.ncbi.nlm.nih.gov/pubmed/30220461Summary: The enigma of how cholesterol is transported within cells has been solved in these experimental mouse models and structural imaging studies by the discovery of the proteins Aster A, B and C, which serve as a molecular bridge for the transfer of cholesterol from the pl...