ESPE Yearbook of Paediatric Endocrinology

Nature. 2021 Jul;595(7867):455-459.Abstract: https://pubmed-ncbi-nlm-nih-gov/34194040/In brief: Using cryo-electron microscopy, the calcium-sensing receptor (CaSR) is visualized with different ligands demonstrating, in great detail, how calcimimetic drugs lock the CaSR homodimer in an assymetric configuration, exposing one of the two protomers for G-protein coupling, whereas calciolytic dru...

Diabetes Care. 2022 May 20:dc211652. https://pubmed.ncbi.nlm.nih.gov/35594057/Brief Summary: This longitudinal study reports trends in diabetic retinopathy (DR) and macular edema (DME) across 3 decades: 1990-1999, 2000-2009, 2010-2019, in a large Australian cohort of 2404 adolescents with type 1 diabetes (T1D). The prevalence of DR decreased between 1990-1999 and 2000-2009, from 40 to 21%, ...

To read the full abstract: Arch Dis Child 2018;103:637-642Management of thyrotoxicosis in children and adolescents remains challenging and treatment varies considerably among institutions. The patient’s age, clinical status and likelihood of remission should be considered when counseling patients and parents. Nevertheless, individual prognosis of antithyroid drug treated Graves’ diseas...

Brief summary: The sodium/iodide symporter (NIS) is the first and limiting step for thyroid hormone synthesis (1). NIS is located at the basolateral membrane of the thyroid follicular cells. NIS translocates iodide against its electrochemical gradient from the blood into the cytosol of the thyroid follicular cell by a co-transport with sodium. Besides iodide, the sodium/iodide symporter has also further substrates such as the environmental endocrine disruptor perchlorate, or s...

To read the full abstract: J Endocrinol Invest. 2020 Feb;43(2):209–217. giulia.rodari@unimi.itGrowth hormone deficiency (GHD) is the most common endocrine late effect in children with tumours involving the hypothalamus-pituitary (HP) area or exposed to cranial, craniospinal or total body radiotherapy (RT). The location of brain tumours in continuity with the sellar/suprasellar area and HP radiatio...

A selection of papers with high impact challenging current knowledge and practice in pediatric thyroidology were published during the last year. On the molecular level, the proof of intracellular compartmentalization of the TSH/TSHR signaling cascade changes our view on TSH/TSHR signaling adding an new level of regulation. On the hormonal level, the fact that thyroid hormones regulate cardiac function and metabolic activity mainly by a noncanonical thyroid hormone receptor ind...

To read the full abstract: J Appl Physiol (1985) 2017;123:1101-1109IGF-1 is a major regulator of growth plate chondrocyte proliferation. While knockout studies reveal substantial impact from both systemic as well from locally-derived IGF-1, transport and distribution patterns within the growth plate remain unknown. Theoretical approaches have been developed to understand the distributio...

fragaudio@alice.it British Journal of Haematology, 2022, 196, 110–115. PMID: 34462914.Brief Summary: This prospective single-centre study evaluated fertility in men diagnosed with Hodgkin lymphoma (HL) by sperm analysis, in order to identify clinical and biological characteristics correlated with fertility status. Only 28% of men showed normal sperm analysis.Previous studies in ...

To read the full abstract: J Pediatr 2017; 187:206-12SRS is a clinically heterogeneous imprinting disorder. Although the understanding of its genetic basis has gradually advanced, about 40% of patients still have an unknown molecular defect. In subjects with unknown etiology, diagnosis is primarily clinical, based upon the Netchine-Harbison scoring system (NH-CSS) [31]. How...

Brief Summary: The European Association for the Study of Obesity (EASO) initiated this online Delphi study. They invited an expert panel of n=194 stakeholders, including policymakers, healthcare professionals, people living with obesity, and researchers from 30 countries to evaluate proposed statements on obesity to create a standardised language. Based on the understanding of obesity as an adiposity-based chronic disease, consensus was achieved on 54 statements categorized in...