ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nature. 2020;578:627–630.In this extensive work, Coscia et al. determined the molecular architecture of the full-length human thyroglobulin (TG) at high resolution by cryo-electron microscopy and identified the four hormonogenic tyrosine residues which act either as mono- or di-iodotyrosine acceptor and donor sites (A-D) and allow the ultimate step of thyroid hormone synthesis – coupling of two di- o...

To read the full abstract: J Clin Endocrinol Metab. 2020 Mar 1;105(3):dgaa037.This study aimed to assess the frequency of natriuretic peptide receptor type B gene (NPR2 ) variants in 87 children with familial short stature (FSS) and evaluate their response to GH therapy. By applying whole-exome or custom-targeted NGS panel sequencing, NPR2 variants were found in 5 children (5.7%) belonging to 4 families. These variants were cla...

To read the full abstract: J Bone Miner Res. 2019;34(12):2171–2182.In brief: The effect of RANKL inhibition on fibrous dysplasia development is explored here using a mouse model of a fibrous dysplasia-like disorder. Anti-mouse RANKL monoclonal antibody treatment prevented the development and growth of lesions. However, after discontinuation of anti-mouse ...

To read the full abstract: Pediatr Blood Cancer. 2020, Apr; 67: e28169. doi: https://www.ncbi.nlm.nih.gov/pubmed/32020769This thought-provoking paper looked at the malignancy risk in DSD from a different perspective. In this study, patients with malignant germ cell tumors (GCT) were identified in registries of pediatric GCT treatment from 1995 to 2005 and were then cross-referenced with ...

To read the full abstract: Disease Models & Mechanisms vol. 13,3 dmm040105. 13 Mar. 2020. doi: https://dmm.biologists.org/content/13/3/dmm040105.longThese authors developed an in vitro model to study human GnRH neuron transcriptome during developmental differentiation. Gonadotropin-releasing hormone (GnRH) neurons in the hypothalamus govern t...

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: Pediatr Obes. 2019 Dec;14(12):e12564. doi: 10.1111/ijpo.12564.In an experimental setting, the authors asked 53 adults to dispense infant milk formula powder for three servings of 2, 4, 6, and 8 fl oz (57, 113, 170 and 226 grams, respectively) bottles, in random order. Remarkably, only 19% of bottles contained the recommended amount of formula powder. The large majorit...

To read the full abstract: Science 2018;362(6416) eaau5324The hypothalamus is a highly complex region, which receives many inputs from several other brain regions and also from the periphery. It is the site of synthesis of many neuropeptides that act as neurotransmitters or via the systemic circulation (in blood). Hypothalamic nuclei are typically defined by their exact anatomical locati...

To read the full abstract: BMJ Open. 2019;9:e024705.This protocol paper describes an innovative phase II trial to study the effect of a single low dose of adjuvant rituximab (a chimeric anti-B-cell monoclonal antibody targeting the surface molecule CD20) compared to classical carbimazole therapy in adolescents and young adults with Graves’ disease. Carbimazole treatment will be stop...

Eur Thyroid J. 2018;7:225-37. doi: 10.1159/000491388. Epub 2018 Jul 19https://www.ncbi.nlm.nih.gov/pubmed/30374425Diagnosis and treatment of central hypothyroidism are much more complex than for primary hypothyroidism. For the first time, guidelines summarize all the available evidence to provide a thorough state of...