ESPE Yearbook of Paediatric Endocrinology

Brief summary: Using data on 4964 type 1 diabetes (T1D) cases and 7497 controls, this study assessed whether the effect of common genetic variants (SNPs) on risk of T1D is mediated through trans-effects on the expression of core genes. Nine putative core genes were identified, all implicated in immune system regulation. In addition, four T1D-associated genomic regions were identified as master regulators that have trans-effects on gene expression.<p class="abstext...

To read the full abstract: Hum Mol Genet. 2018 Apr 1;27(7):1228-1240See comment on 6.16...

JCI Insight. 2020 Oct 27;5(23):e134310. doi: 10.1172/jci.insight.134310. PMID: 33108146.Lodge et al. screened 28 patients with pituitary stalk interruption syndrome (PSIS) for mutations in the FAT/DCHS (FAT atypical cadherin/ Dachsous cadherin-related) family of protocadherins. FAT2 and DCHS2 putative damaging variants were found in 6/28 patients with ectopic ...

Cell Metab. 2020; 31(4):710–725.e7. doi: 10.1016/j.cmet.2020.02.016. PMID: 32197072.In brief: High-sugar diets cause thirst, obesity and metabolic dysregulation, leading to insulin resistance, the MetS, T2DM and shortened lifespan. This study shows that high sugar diets induce dehydration in adult Drosophila. Water supplementation fully rescued the shortened lifespan, but ...

Orphanet J Rare Dis. 2021 Dec 23;16(1):522.Abstract: https://pubmed-ncbi-nlm-nih-gov/34949201/In Brief: Based on over 37,000 length/height, weight and head circumference measures from 1374 patients with achondroplasia in the USA, updated length/height-for-age, weight-for-age, head circumference-for-age (HC) and weight-for-height curves were generated for children up to 18 years of age (HC u...

Eur J Endocrinol. 2022 Apr 21;186(6):G9-G49. PMID: 35353710, doi: 10.1530/EJE-22-0073.Brief Summary: This Endo-European Reference Network guideline was endorsed by the European Society for Pediatric Endocrinology, the European Society for Endocrinology, and the European Academy of Andrology. It provides extensive data on the hormonal management in young individuals with hypogonadism or DSD in nee...

Nat Med. 2022 Mar;28(3):513–516. doi: 10.1038/s41591-022-01735-0. Epub 2022 Mar 21.Brief Summary: Currently, preimplantation genetic testing (PGT) is used to avoid specific rare Mendelian disorders before in-vitro fertilization (IVF). However, evidence is limited on the potential use of a polygenic risk score (PRS) that combines thousands of genetic variants as a predictor fo...

To read the full abstract: Cell 2019;177 (3):59–-607.e9. PMID 31002796.A recent GWAS showed that the heritability of thinness was comparable to that of obesity (1). Some loci showed effects across the entire BMI distribution. This is also true for variants in MC4R. The present study analyzed data on ˜0.5 million people from UK Biobank, with a focus on 61 nonsynonymous var...

To read the full abstract: Pediatr Diabetes. 2018;19:1471–1480It has been debated whether or not new technologies, in particular the combination of insulin pumps and continuous glucose testing, will improve patient satisfaction and quality of life rather than only metabolic control and risk of microvascular complications. Indeed, the use of continuous subcutaneous insulin infusion (...

To read the full abstract: Int J Obes (Lond). 2019;43(6):1256–1268This epigenome-wide association study in stromal/stem cells (ASCs), derived from subcutaneous adipose tissue samples of lean and obese subjects, revealed a specific DNA methylation signature in adipocyte precursors associated with obesity, which has a significant impact on the metabolic phenotype and the mitochondrial...