ESPE Yearbook of Paediatric Endocrinology

Arch Dis Child Fetal Neonatal Ed. 2022 Mar 14:fetalneonatal-2021-323296. doi: 10.1136/archdischild-2021-323296. Epub ahead of print. PMID: 35288450.Brief Summary: This study tested the hypothesis that the diurnal cortisol area under the curve (mean daily level) and diurnal cortisol slope (decline across the day) differ between infants born preterm and those born at term. Extremely pr...

Hum Mol Genet. 2022 May 10:ddac093. doi: 10.1093/hmg/ddac093. Online ahead of print. PMID: 35535691Brief Summary: This genome-wide association study (GWAS) of patients with thyroid dysgenesis identified a genetic risk locus for thyroid athyreosis and ectopy. In depth genetic analyses of the disease associated region suggested a new disease mechanism of thyroid dysgenesis mediated by impaired Wnt ...

Nature. 2021 Jul;595(7867):455-459.Abstract: https://pubmed-ncbi-nlm-nih-gov/34194040/In brief: Using cryo-electron microscopy, the calcium-sensing receptor (CaSR) is visualized with different ligands demonstrating, in great detail, how calcimimetic drugs lock the CaSR homodimer in an assymetric configuration, exposing one of the two protomers for G-protein coupling, whereas calciolytic dru...

Elife. 2021 Sep 8;10:e69765. doi: 10.7554/eLife.69765. PMID: 34494548. https://elifesciences.org/articles/69765Brief Summary: Using a database for arcuate nucleus transcripts, this study identifies Nhlhl2 as a key regulator of the Kiss1 gene in male mice.The timing of puberty onset is i...

Transl Psychiatry. 2022; 12(1): 109. PMID: 35296634 https://pubmed.ncbi.nlm.nih.gov/35296634/Brief Summary: This mouse study identified sex and genotype-dependent effects of oral corticosterone on behavioral and physiological outcomes as well as on gene expression and epigenetics in hippocampal subregions.Glucocorticoids exert their effects by binding to glucocorticoid...

J Clin Endocrinol Metab. 2022; dgac271. PMID: 35512387 https://pubmed.ncbi.nlm.nih.gov/35512387/Brief Summary: This study, in a series of independent patient cohorts, developed and validated a clinical score, based on the circulating concentrations of 13 major steroid hormones, to detect and subtype Congenital Adrenal Hyperplasia (CAH).Steroidogenesis is a complex proc...

Cell Rep Med 2022;3:100598. https://pubmed.ncbi.nlm.nih.gov/35492248/Brief Summary: This study used a combination of mice models and cultured human islets to show that a glucagon-like peptide-1 (GLP-1) and estrogen (E2) dual agonist (GLP1-E2) provides superior protection from insulin-deficient diabetes compared to GLP-1 and E2 monoagonists. Pancreatic islet protection...

Nat Hum Behav. 2022;6(1):43-54. doi: 10.1038/s41562-021-01196-4.PubMed ID: 34504299Brief summary: This study analysed a large database of emails, calendars, instant messages, video/audio calls and workweek hours routinely generated by 61 182 US Microsoft employees in the months before and after 4th March 2020, when the company mandated that all non-essential employees change to full-time w...

To read the full abstract: J Clin Endocrinol Metab. 2019 Dec 1;104(12):5737–5750. doi: 10.1210/jc.2019-00631. PMID: 31504653.This paper describes two genes and three syndromes that clinicians would probably like to know when treating patients with a syndromic form of panhypopituitarism. Heterozygous mutation in a maternally imprinted gene, MAGEL2, was described in four patients...

To read the full abstract: J Clin Endocrinol Metab. 2020 Jan 30. pii: dgaa040. doi: 10.1210/clinem/dgaa040. PMID: 31996917.The International FIPA Consortium recommend that aryl hydrocarbon receptor-interacting protein (AIP ) gene mutations are worth screening for prospectively in family members of AIPmut patients, and the detected carriers should be clinically followed. AI...