ESPE Yearbook of Paediatric Endocrinology

Translational psychiatry 2022;12(1):59. doi: 10.1038/s41398-022-01817-0Brief Summary: This population genetics study explored pairwise genome-wide genetic correlations between neuropsychiatric disorders with insulin-related somatic diseases and traits. There were likely protective effects of obsessive-compulsive disorder and anorexia nervosa on the risks of having MetS, obesity and T2DM; i...

Science Advances, 2021,7:eabj5018 doi: 10.1126/sciadv.abj5018Brief Summary: The authors developed a liver-targeting adeno-associated virus (AAV) vector carrying C-terminal FGF23 (cFGF23) to inhibit FGF23 signalling in a mouse model for X-linked hypophosphataemic rickets (hyp-duk mice). They were able to show that a single injection of AAV cFGF23 rescued the hyp-duk phenotype.<p class="abst...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgz145. PMID: 31665349.Prenatal treatment with glucocorticoids (GC) is used in several clinical indications. However, the long-term outcome on offspring metabolic, somatic and cognitive health has raised significant concern. In rodents, high glucocorticoid levels inhibit development of beta cells during fetal life and lead to...

To read the full abstract: Nat Commun. 2018 Oct 10;9(1):4194.This study identifies Sirtuin 1 (SIRT1), a fuel-sensing deacetylase, as a molecule that restrains female puberty via epigenetic repression of the puberty-activating gene, Kiss1 in rats.The last few years have brought evidence regarding the epigenetic control of the onset of puberty. It is now cle...

To read the full abstract: PLoS Genet. 2019; 15(1):e1007603.This genome wide association study reveals new insights into the genetic basis of thinness by investigating a large cohort of healthy persistently thin individuals. In the past, it has been speculated that inheritance of thinness may constitute a protective factor against environmental factors disposing to obesity (1). Neverthel...

To read the full abstract: Int J Obes (Lond). 2019;43(6):1256–1268This epigenome-wide association study in stromal/stem cells (ASCs), derived from subcutaneous adipose tissue samples of lean and obese subjects, revealed a specific DNA methylation signature in adipocyte precursors associated with obesity, which has a significant impact on the metabolic phenotype and the mitochondrial...

To read the full abstract: N Engl J Med 2019;380:23-32.Summary: In this randomized primary prevention placebo-controlled trial of 25,871 US adults, with a two-by-two factorial design, supplements with omega-3 did not lower the overall incidence of adverse cardiovascular events or cancer compared to a placebo.Comment: Omega-3 fatty acids are polyun...

To read the full abstract: N Engl J Med 2019;380:33–44This paper describes a large randomized, placebo-controlled trial of vitamin D3 (cholecalciferol) 2000 IU per day in 25,871 US adults. After median follow-up of 5.3 years, supplementation with vitamin D did not alter the risk of the primary end points, invasive cancer of any type hazard ratio, 0.96; 95% confidence interval [CI], ...

To read the full abstract: PLoS Med 2018;15:e1002681.These authors highlight a novel pregnancy risk factor, ‘late-pregnancy dysglycaemia’ in women who are obese but had normal glucose tolerance when they were tested for gestational diabetes mellitus (GDM) earlier in pregnancy. In a prospective cohort study of obese women without GDM (n<...

To read the full abstract: Nat Rev Endocrinol. 2018 May 16[Comments on 6.19 and 6.20] These two publications, a review and a consensus statement, are especially useful in the clinical care for individuals with disorders affecting the sex development, albeit in different ways. Since the Chicago consensus in 2005, the knowledge of the ...