ESPE Yearbook of Paediatric Endocrinology

In brief: This retrospective study reports on the relationship between serum phosphorus and fibrous dysplasia-related skeletal complications (fractures, orthopaedic surgery, and scoliosis) in a large cohort of patients (n=240).Commentary: Fibrous dysplasia (FD) / McCune-Albright syndrome (MAS) is a rare mosaic disorder caused by postzygotic gain-of-function mutations in Gαs, resulting in continuous receptor activation. FD can range from an isolated,...

Brief Summary: Through a series of experiments in the nonobese diabetic/Ltj mouse model and human β-cells, the authors show that the RANK pathway mediates cytokine-induced β-cell death through RANK-TRAF6 interaction and induction of NF-KB activation. Inhibition of the RANKL/RANK pathway following treatment with osteoprotegerin and denosumab protected β-cells against this cytotoxicity, reduced proinflammatory cytokines in activated T-cells, and reversed T1D in th...

Nat Commun. 2022 Feb 9;13(1):775. doi: 10.1038/s41467-022-28120-2. PMID: 35140214Brief Summary: This in vitro study identified interactions between distinct cell populations of the thyroid gland and immune cells in the context of Hashimoto thyroiditis. The authors provide important new insights into the pathological mechanism of Hashimoto thyroiditis by characterizing the stromal ...

Front Genet. 2022 Mar 3;13:736988. PMID: 35309143, doi: 10.3389/fgene.2022.736988.Brief Summary: This molecular study highlights a novel mechanism of action of Mitogen-activated protein kinase kinase kinase 1 (MAP3K1) in the development of testicular dysgenesis.MAP3K1 is one of the most common genes that has been identified to cause 46, XY DSD and variants are attribu...

Cell Metabolism 2022;34(5):667-80.e6. doi: 10.1016/j.cmet.2022.03.006Brief Summary: In preclinical models and a phase 1 trial, a powerful new lipid small molecule was shown to act through a mechanism distinct from those of known hypolipidemic agents. Targeting HNF-1α may be a new therapeutic strategy.Comment: Familial hypercholesterolemia (FH) is the most common...

To read the full abstract: Science 2018;361:76–81.The tuberal nucleus (TN) is a hypothalamic region which is well described in humans but remains poorly defined in rodents. In this paper, the authors demonstrated by specific and sophisticated techniques the role of somatostatin expressing TN (TNSST) neurons in the control of food intake in mice. Interestingly, their resul...

In Brief: The authors conducted genome sequencing on 151 mother–father–offspring trios from 68 vertebrate animal species in order to estimate and compare germline mutation rates (GMRs). They found a 40-fold variation in GMR per generation between the species. Higher GMRs were observed in species that have a longer generation time, older age at puberty and fewer offspring per generation.Comment: Mutations in germline DNA during gametogenesis are...

Department of Epidemiology, School of Public Health, Brown University, Providence, Rhode Island, USAcatherine.buck@yale.edu Obesity (Silver Spring). 2021 Jun;29(6):1036–1045. doi: 10.1002/oby.23160. https://pubmed.ncbi.nlm.nih.gov/34029449/Brief Summary: This longitudinal study assessed the ass...

To read the full abstract: J Clin Invest 2020;130(4):2001–16.In this study, Perry et al used their well-established animal model of fasted rats to unravel how feeding induces hyperthermia and energy expenditure.They showed that intracerebroventricular injection of leptin normalized fasting induced low plasma epinephrine and norepinephrine levels and body temperat...

Brief summary: The authors used data from the Global Burden of Disease 2019 to examine the incidence, disability adjusted life years and mortality of early onset type 2 diabetes T2D) in those 15–39 years of age. This showed that early onset T2D is a growing global health problem in adolescents and young adults, particularly in low-middle- and middle-income countries.Early onset of type 2 diabetes (T2D) is associated with longer lifetime exposure hyp...