ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Endocrinology 2019;160:557–567.There is now no doubt that arcuate nucleus (ARC) kisspeptin neurons are the GnRH pulse generator. The authors analyzed the activity of ARC kisspeptin neurons by using a very powerful method based on the recording of calcium concentration within cells.ARC kisspeptin neurons activity was analyzed in male ...

To read the full abstract: Endocrinology 2019;160:1480–1491.There is now no doubt that arcuate nucleus (ARC) kisspeptin neurons are the GnRH pulse generator. (With paper 1.8) this second paper describes the activity of the GnRH pulse generator across the estrous cycle. In this work, the variable level of E2 represented an additional complexity. The second interest was to understand ...

To read the full abstract: Nature 2017;548:52-57The central nervous system contributes to ageing. The hypothalamus seems to be particularly important in this process. Recent studies have demonstrated a link between ageing and a decrease of neurogenesis in the hippocampus and the subventricular zone of the lateral ventricle in the brain. Neural stem/progenitor cells (NSC) reside in those regions in ...

To read the full abstract: Cell Reports. 2018 Dec 4;25(10):2643–2652.e4.More on the gut and the reward response: Ghrelin has been reported to encourage eating through dopamine that is important for the reward response. Here, the authors injected 38 subjects with ghrelin, while exposing them to various odors, both food and non-food based. They were also shown r...

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...

To read the full abstract: J Clin Endocrinol Metab. 2017 Sep 1;102(9):3261-3267At a histological level congenital hyperinsulinism (CHI) is classified into three forms, namely diffuse, focal and atypical. The atypical forms display histological mosacism (heterogeneous populations of islets, which appear to be resting or quiescent and localized to particular domains/lobes of the pancreas) but the m...

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...

JAMA. 2020 Aug 25;324(8):752–760. doi: 10.1001/jama.2020.12384. Abstract: https://pubmed.ncbi.nlm.nih.gov/32840597/In brief: Several observational studies have linked low serum 25(OH)D levels to severe asthma exacerbations, lower lung function, and reduced response to corticosteroids. In this randomized controlled trial...

Nature. 2021 volume 594, 398–402https://www.nature.com/articles/s41586-021-03552-wThe authors report a large genome-wide association study (GWAS) of type 1 diabetes (T1D) in 18 942 cases and 501 638 controls, finding 92 T1D-associated genomic loci (59 known and 33 novel). Furthermore they analyse DNA chromatin patterns in pancreas and peripheral white blood cells to help ident...

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...