ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2021 19;107(5):1346-1356. doi: 10.1210/clinem/dgab932. PMID: 34971397.Brief Summary: This is a case report of a potentially new genetic disorder that causes hyperinsulinaemic hypoglycemia, protein sensitivity and high serum ammonia level (Hyperinsulinism/hyperammonemia syndrome (HI/HA) syndrome). Mutations in the solute the carrier family 25, member 36 (SLC25A36) may b...

NIDDK Type 1 Diabetes TrialNet Study Group.Diabetes. 2022 Apr 1;71(4):610-623. https://pubmed.ncbi.nlm.nih.gov/35316839/Brief Summary: This is a comprehensive review on general population screening, a current hot topic in the field of type 1 diabetes (T1D). The authors provide a critical overview of the rationale for population screening, arguments for and against it, current efforts to gui...

Nature. 2021;600(7890):720-6. doi: 10.1038/s41586-021-04137-3.PubMed ID: 34880500Brief summary: This mouse study identifies FABP4 (‘Fabkin’) as a new fat-derived hormone that regulates insulin-producing beta cells in the pancreas.We have learnt over the recent years that body fat is not simply a passive energy storage tissue, but instead secretes a number o...

To read the full abstract: Eur J Endocrinol. 2020, Jun; 182: P1–p15; doi: https://eje.bioscientifica.com/downloadpdf/journals/eje/182/6/EJE-19-0831.pdfDiagnosis and monitoring of therapies for DSD patients require clinical, biochemical and genetic assessments. Biochemical analyses comprise the measurements of peptide and steroid hormones. This positi...

To read the full abstract: JAMA. 2020 Jan 28;323(4):339–351. doi: 10.1001/jama.2019.21565. PMID: 31990315It is unclear how many children in the general population have features of anti-islet cell autoimmunity without later developing type 1 diabetes (T1DM). This public health screening program determined the population prevalence of islet cell autoantibodies (ICA) and the risk for pro...

To read the full abstract: Science Advances 2019;5:eaaw7908This paper shows that the craniofacial and cognitive/behavioral phenotypes caused by alterations at the critical gene region for the Williams-Beuren syndrome is caused by changes in the chromatin remodeler BAZ1B in neural crest, and can serve as an entry point into the evolution of the modern human face and pro-sociality.Williams-Beuren syndrome is caused ...

To read the full abstract: Pediatr Diabetes. 2018;19:749–755.Disordered eating behaviors (DEBs) may lead to full blown eating disorders and these might impair patients’ adherence to chronic disease management. Both type 1 diabetes mellitus (T1DM) and celiac disease (CD) are associated with DEBs. Adolescents with T1D and eating disorders have worse metabolic control and a higher...

To read the full abstract: Nature 567, 43–48 (2019)Cell engineering might be a way to reinstall insulin-production in the pancreas of people with autoimmune diabetes. This experimental mouse study achieved to switch human alpha cells to secrete insulin.Cell-identity switches, in which terminally differentiated cells are converted into different cell types, rep...

To read the full abstract: J Clin Endocrinol Metab 2018;103:1583-1591The Controlled Antenatal Thyroid Screening (CATS) study started in 2002 and was the first randomized controlled trial to evaluate the effect of screening and treatment of mild hypothyroidism during pregnancy on child cognition1. A large number of women (n=21,846) were recruited at a median ...

To read the full abstract: Front Endocrinol (Lausanne). 2018 Apr 4;9:142Here, Martinez de LaPiscina et.al. investigated gene-gene interactions in 46,XY DSD. GATA4 is known to be associated with 46,XY DSD and has also been described to cause congenital heart defects. The authors characterize 3 individuals with 46,XY DSD, and GATA4 variants; 1 patient with and 2 without congenital heart defects....