ESPE Yearbook of Paediatric Endocrinology

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 Mar 1;105(3):dgaa037.This study aimed to assess the frequency of natriuretic peptide receptor type B gene (NPR2 ) variants in 87 children with familial short stature (FSS) and evaluate their response to GH therapy. By applying whole-exome or custom-targeted NGS panel sequencing, NPR2 variants were found in 5 children (5.7%) belonging to 4 families. These variants were cla...

To read the full abstract: Endocrinology. 2018 Jan 1;159(1):368-387Hypothalamic inflammation has been linked to the development and progression of obesity and its sequelae. Obesity in rodents and humans is associated with gliosis of the arcuate nucleus, a key hypothalamic region for the regulation of energy homeostasis and adiposity. Gliosis, the activation of astrocyte and microglial cell popula...

To read the full abstract: Inflamm Bowel Dis. 2017;23:1410-1417This cross-sectional study analyzed bone health status by high-resolution peripheral quantitative computed tomography (HRpQTC) of a Swiss Cohort of young patients with inflammatory bowel disease (IBD) in comparison to healthy controls, matched for sex, age, height and fracture history. The results showed subtle abnormalities in...

To read the full abstract: Diabetes Care. 2018;41:311-317Some researchers assume that the etiology of T1DM is distinct from that of Type 2 diabetes mellitus. T1DM is characterized by autoimmune phenomena leading to the destruction of pancreatic islets and most importantly of beta-cells. Genetic factors are thought to influence the likelihood of autoimmune phenomena developing into overt autoimmune di...

Science. 2020 Oct 23;370(6515):463-467. doi: 10.1126/science.aba4767. PMID: 33093109These researchers used lineage tracing, combined time-lapse imaging with single cell RNA sequencing in zebrafish, and identified that endoderm actually also contributes to the formation of adenohypophysis primordium and resultant pituitary.The pituitary gland is considered to be forme...

Pituitary. 2021 Jun;24(3):465–481. doi: 10.1007/s11102-021-01148-1. PMID: 33939057.Frara et al. review the main endocrine manifestations of COVID-19 with its implications for pituitary diseases. The authors report on the possible direct and indirect involvement of the pituitary gland in COVID-19 infection, and also the impact of COVID-19 on the management of pituitary dise...

Pediatrics. 2022 1;149(6):e2021050733. doi: 10.1542/peds.2021-050733. PMID: 35582897.Brief Summary: This randomized clinical trial in ‘at-risk’ neonates with asymptomatic hypoglycemia tested whether oral dextrose gel prevented the need for intravenous fluids. Oral dextrose gel reduced the need for intravenous fluids as well as admission to the neonatal intensive care unit (NICU).</...

Eur J Endocrinol. 2021 May 24;185(1):77-85. doi: 10.1530/EJE-20-1332. PMID: 33914700.Brief Summary: This case control study assessed beta-cell function and glucose metabolism in large for gestational age (LGA) infants in relation to their weight and growth parameters at 2 years of age. In LGA infants, changes in growth parameters were associated with changes in insulin resistance and beta-cell dy...

J Clin Endocrinol Metab, 2022. 107(5): p. 1357-1367. PMID: 34964458Brief Summary: This multicenter, randomized, controlled, phase 2 study compared the effects of once-weekly long-acting growth hormone (GH) somapacitan versus daily GH administered to GH-deficient (GHD) children over a period of 156 weeks. Efficacy estimates were height velocity (HV; cm/y) at year 3 and changes from baseline to end for height SDS, HV SDS, IGF-I SDS, and insulin-li...