ESPE Yearbook of Paediatric Endocrinology

Nat Rev Nephrol. 2019 May 8. doi: 10.1038/s41581-019-0152-5. [PMID: 31068690].Abstract: www.ncbi.nlm.nih.gov/pubmed/?termZ31068690In brief: In this Evidence-Based Guideline on X-linked hypophosphataemia, the authors identify the criteria for diagnosis of this disease, provide guidance for medi...

J Clin Endocrinol Metab 2021; 106(3):814–825.https://pubmed.ncbi.nlm.nih.gov/33236103/Here, the authors performed a randomized, 12-week, crossover study in order to assess cortisol metabolism during dual-release hydrocortisone (DR-HC) and conventional hydrocortisone (TID-HC) therapy in patients with primary adrenal insufficiency (n=50). Healthy controls (n=124) were i...

PLoS ONE 2021;16: e0245372. doi: 10.1371/journal.pone.0245372– According to pharmacopeia, unopened insulin vials must be stored in a refrigerator (2–8 °C) while storage at ambient temperature (25–28 °C) is usually permitted for the 4-week usage period during treatment– The authors investigated whether insulin remains stable and retains biological activity...

J Clin Endocrinol Metab. 2021 Jul 13;106(8):2279-2290. doi: 10.1210/clinem/dgab331. PMID: 33982055.Brief Summary: This prospective birth cohort study assessed the impact of maternal glycaemia on infant neurodevelopment at 12 months of age. Maternal glucose levels during pregnancy were associated with infant neurodevelopmental outcomes.High maternal blood glucose levels m...

The New England Journal of Medicine 2021;385(5):416-26. doi: 10.1056/NEJMoa2100165Brief Summary: This multicenter observational study assessed the cumulative incidence of diabetic complications in 500 adolescents with Type 2 diabetes (T2DM), followed from 2011 to 2020. After only 13 years from T2DM diagnosis, higher complication rates were observed than those reported for pediatric patients wit...

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...