ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nat Commun. 2018 May. 17;9(1):1977.This population study reports 26 loci for ages at menarche and menopause in a Japanese population and demonstrates widespread differences in allele frequencies and effect estimates between Japanese and European variants.Over the past decade, genome-wide association study (GWAS) meta-analys...

To read the full abstract: Nature Medicine. 2019;25(11):1733–8. PMID 31700171.These authors sequenced the gene for melanocortin-2 receptor accessory protein (MRAP2 ) in 9418 blood DNA samples from several population studies. They detected 23 rare heterozygous variants, which were significantly associated with an increased risk of obesity (OR 3.8 in children and 2.9 in adults)....

To read the full abstract: Pediatr Blood Cancer. 2020 Mar;67(3):e28106. ebrignardello@cittadellasalute.to.itPremature aging has been proposed as a paradigm to explain the early cardiovascular disease (CVD) that affects young-adult childhood cancer survivors (CCS). Protein glycation is recognized as one of the main factors contributing to aging. Advanced glycation end products (AGEs) are a...

To read the full abstract: JAMA Pediatr 2019; 173:953–960.Dietary proteins, such as gluten, have been suggested to serve as triggers of the autoimmune process that leads to type 1 diabetes (T1DM). These authors studied the potential associations of cereal, gluten, and dietary fiber intake with the development of islet autoimmunity (IA) and T1DM.The prospective birth cohort Finnish Type 1 Diabetes Prediction and Preven...

Abstract: Nature. 2018 Sep;561(7722):195–200.In brief: This study used various cell-based methods and animal models to investigate the RANK-RANKL signaling pathway in bone homeostasis. The authors show for the first time, that reverse signaling exists from osteoclast to osteoblast and that vesicular RANK, secreted by the osteoclast, relays information to the osteoblast...

To read the full abstract: Eur J Endocrinol. 2019 May 1;180(5):281–290.This longitudinal prospective study of 61 children with a 5-10 years follow-up post severe traumatic brain injury evaluates the prevalence of pituitary deficiency and precocious puberty.In children, retrospective and prospective studies report variable rates of hypothyroidism...

To read the full abstract: J Pediatr. 2019;207:205–2129.Psychosocial issues and psychiatric disease are prevalent in young patients with type 1 diabetes (T1D). Most importantly, eating disorders, anxiety-related behavioral problems as well as depression have all been shown to occur (1). In a nationwide population-based survey, this group had previously reported on relationships betw...

To read the full abstract: Nature 2018;560:489–493.This paper reports competitive gut colonization experiments in mice. Compared to adult mice, neonatal mice showed much higher expression of the flagellin receptor Tlr5 in their intestinal epithelial cells, and exposure to this protein during the first 2 weeks of life, before weaning, was crucial in determining lifelong...

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: J Clin Endocrinol Metab. 2017;102:2516-2524The Adult Health Study (AHS) is a clinical program established in 1958 by the Radiation Effects Research Foundation (RERF) as a subset of the Life Span Study to examine the late effects of atomic bomb exposure (1-2). This cross-sectional analysis evaluated the dose-response effect of radiation exposure on the prevalence of thyr...