ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This study describes how the primary cilia of hypothalamic neurons bearing melanocortin-4 receptors (MC4R) progressively shorten with age, leading to reduced sensitivity to satiety signals, increased appetite, and obesity. This age-related ciliary shortening is exacerbated by chronic leptin-melanocortin signalling, but can be mitigated by dietary restriction or knockdown of ciliogenesis-associated kinase 1 (CILK1). These findings suggest potential therapeutic ap...

Brief Summary: The authors describe the development and utility of an international collaborative database in congenital adrenal hyperplasia (CAH). I-CAH serves as a tool for benchmarking clinical care and supporting research and development of novel therapies.Rare disease registries can form the basis of best practice guidelines and allow for monitoring of new drugs and therapeutic interventions. The I-CAH Registry was developed as an international plat...

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...

Brief Summary:This cross-sectional study investigated assay methods for diagnosing PCOS among 359 premenopausal women presenting with functional androgen excess or hyperandrogenemia. Serum androgens and AMH were measured by both immunoassay and LC–MS/MS, and ovarian ultrasound was performed. Steroid immunoassays used in routine practice were unacceptably inaccurate compared to LC-MS/MS, and ‘PCOS-positive’ serum AMH measurements were often not confirmed by ovari...

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...