ESPE Yearbook of Paediatric Endocrinology

Cell. 2021 Oct 28;184(22):5506–5526. doi: 10.1016/j.cell.2021.09.034Brief Summary: The authors review the function and the underlying molecular mechanisms of 4 major species of endogenous cytoplasmic DNA (cytoDNA) in the development of chronic ageing-associated diseases.In the presence of foreign DNA (e.g. viral infections), innate immunity acts as a defence mec...

To read the full abstract: Thyroid. 2019;29:790–801.Patients with mutations in the dual oxidase 2 (DUOX2 ) gene – encoding a NADPH oxidase that generates hydrogen peroxidase for iodide organification – have been repeatedly reported as not being detected by neonatal screening because it causes only mild hyperthyrotropinemia at birth. Here, Peters et al. determined the incidence of DUOX2 and dual oxidase 2...

To read the full abstract: Environmental health perspectives vol. 127,10 (2019): 107011. doi: https://ehp.niehs.nih.gov/doi/full/10.1289/EHP5570?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmedThis study identifies the effects of exposure to environmentally rel...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(5): 1427–1434. PMID: 31853550.GDF15 is a stress-induced hormone that acts in the hindbrain to activate neural circuits involved in aversive responses and reducing food intake and body weight in animal models (1). In humans, GDF15 is widely expressed, with highest concentrations seen in placental trophoblasts, followed by kid...

To read the full abstract: J Endocrine Society 2020; 4 (2): 1–13. doi: 10.1210/jendso/bvz013• The authors performed a retrospective analysis of the economic burden in a cohort of 195 patients with genetically confirmed CAH born in São Paulo where there is presently no neonatal screening for CAH.• The cost associated to mortality of undiagnosed patients was estimated to ra...

To read the full abstract: Endocrinology. 2019;160:1363–1376.Pregnancy-associated plasma protein A2 (PAPP-A2) is a metalloproteinase which, by cleaving IGFBP-3 and IGFBP-5, releases free IGF-I from the ternary complexes and regulates its bioavailability. PAPPA2 gene mutations (p.D643fs25* and p.Ala1033Val) have recently been described in various members of two unrelated fam...

To read the full abstract: Psychoneuroendocrinology. 2018; 97: 156–163.Anxiety disorders are common in childhood and adolescence and the transition from childhood to adolescence seems to be a vulnerable period for the development of anxiety symptoms. This article elucidates the impact of androgens (DHEA, DHEAS and testosterone) on functional connectivity of the amygdala while ...

Pediatr Diabetes. 2018 May 15. doi: 10.1111/pedi.12691There is a small but significant debate as to whether or not type 1 (T1D) and type 2 diabetes (T2D) are the same disease with albeit different course. It might therefore be prudent to include into a chapter on T1D a publication on T2D. This study aimed to describe recent medication patterns and changes in medication patterns and glycemic con...

To read the full abstract: Int J Obes 2019; 43(2): 384–91Studies regarding brown adipose tissue (BAT) activity in children are scarce due to the difficulties in detecting BAT by imaging and the need for elaborate techniques to measure BAT activity. Here, prepubertal children born small for gestational age (SGA, n=41) and children born appropriate for gestational age (AGA, <...

To read the full abstract: Cell Rep 2019; 27(5): 1528–40These authors used FACS cell sorting, gene expression profiling, and metabolic and proteomic analyses to identify three distinct adipocyte progenitor cell (APCs) subtypes that reside in human white adipose tissues. Although they retain comparable differentiation capacity, they have different molecular profiles and give rise to ...