ISSN 1662-4009 (online)

ey0016.11-10 | Brown Adipose Tissue: The Story Goes On | ESPEYB16

11.10. Brown adipose tissue in prepubertal children: associations with sex, birthweight, and metabolic profile

R Malpique , JM Gallego-Escuredo , G Sebastiani , J Villarroya , A Lopez-Bermejo , F de Zegher , F Villarroya , L Ibanez

To read the full abstract: Int J Obes 2019; 43(2): 384–91Studies regarding brown adipose tissue (BAT) activity in children are scarce due to the difficulties in detecting BAT by imaging and the need for elaborate techniques to measure BAT activity. Here, prepubertal children born small for gestational age (SGA, n=41) and children born appropriate for gestational age (AGA, <...

ey0017.4-14 | New paradigms | ESPEYB17

4.14. Circulating IGF-1 independently predicts blood pressure in children with higher calcium-phosphorus product levels

S Xargay-Torrent , E Dorado-Ceballos , A Benavides-Boixader , E Lizarraga-Mollinedo , B Mas-Pares , M Montesinos-Costa , F De Zegher , L Ibanez , J Bassols , A Lopez-Bermejo

To read the full abstract: J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz101.The aim of this prospective longitudinal study of 521 healthy children (8.8 ± 0.1) was to evaluate the correlation of circulating IGF-I levels with metabolic and cardiovascular parameters and the potential interaction with the Calcium-Phosphorus product (Ca&ast;P). 158 subjects were re-evaluated after a follow-up of 5 years. Baseline IGF-I and IGF-I/IGFBP-3 molar r...

ey0016.5-7 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.7. Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

P Heyn , CV Logan , A Fluteau , RC Challis , T Auchynnikava , CA Martin , JA Marsh , F Taglini , F Kilanowski , DA Parry , V Cormier-Daire , CT Fong , K Gibson , V Hwa , L Ibanez , SP Robertson , G Sebastiani , J Rappsilber , RC Allshire , MAM Reijns , A Dauber , D Sproul , AP Jackson

Abstract Link: Nat Genet. 2019 Jan;51(1):96–105.In brief: Gain-of-function mutations altering DNMT3A are identified as a new cause of microcephalic dwarfism. Modelling of the disease in mice show that the mutations abrogate DNMT3A binding to H3K36me2 and H3K36me3 and lead to aberrant DNA methylation of Polycomb-marked regions and therefore repression ...

ey0020.2-2 | Important for Clinical Practice | ESPEYB20

2.2. Safety and efficacy of pediatric growth hormone therapy: results from the full KIGS cohort

M Maghnie , MB Ranke , ME Geffner , E Vlachopapadopoulou , L Ibanez , M Carlsson , W Cutfield , R Rooman , R Gomez , MP Wajnrajch , A Linglart , R Stawerska , PE Clayton , F Darendeliler , ACS Hokken-Koelega , R Horikawa , T Tanaka , HG Dorr , K Albertsson-Wikland , M Polak , A Grimberg

Brief summary: This study reports data from the full Kabi/Pfizer International Growth Database (KIGS), a large international database including 83803 children treated with rhGH for GHD and non-GHD conditions. The data confirm that rhGH is effective in increasing short-term height gain and adult height in various conditions and validate rhGH safety, with no new serious adverse events reported.KIGS (Kabi/Pfizer International Growth Database), first establi...