ISSN 1662-4009 (online)

ey0020.7-9 | Bone Health in Inflammatory Bowel Disease | ESPEYB20

7.9. Young adult male patients with childhood-onset IBD have increased risks of compromised cortical and trabecular bone microstructures

GV Sigurdsson , S Schmidt , D Mellstrom , C Ohlsson , R Saalman , M Lorentzon

Brief summary: This prospective longitudinal study of childhood-onset inflammatory bowel disease (IBD) analysed areal bone mineral density (aBMD) and alterations of bone microstructure in 49 young adult male patients with childhood-onset IBD, compared to 249 controls from the same region and matched for age, sex and height.Dual x-ray-absorptiometry (DXA) is routinely used in clinical practice to evaluate aBMD and the related risk of fracture, but it is u...

ey0017.6-10 | Differences/Disorders of Sex Development: Clinical Studies | ESPEYB17

6.10. The external genitalia score (EGS): A European multicenter validation study

S Van der Straaten , A Springer , A Zecic , D Hebenstreit , U Tonnhofer , A Gawlik , M Baumert , K Szeliga , S Debulpaep , A Desloovere , L Tack , K Smets , M Wasniewska , D Corica , M Calafiore , ML Ljubicic , AS Busch , A Juul , A Nordenstrom , J Sigurdsson , CE Fluck , T Haamberg , S Graf , SE Hannema , KP Wolffenbuttel , O Hiort , SF Ahmed , M Cools

To read the full abstract: J Clin Endocrinol Metab. 2020, Mar 1; 105. doi: https://academic.oup.com/jcem/article-abstract/105/3/e222/5609091?redirectedFrom=fulltextThis cross-sectional study collected measures of genital development from 181 premature neonates, 378 term neonates, 308 babies up to 24 months, and in 111 babies with atypical geni...

ey0016.14-16 | (1) | ESPEYB16

14.16. Insights into imprinting from parent-of-origin phased methylomes and transcriptomes

F Zink , DN Magnusdottir , OT Magnusson , NJ Walker , TJ Morris , A Sigurdsson , GH Halldorsson , SA Gudjonsson , P Melsted , H Ingimundardottir , S Kristmundsdottir , KF Alexandersson , A Helgadottir , J Gudmundsson , T Rafnar , I Jonsdottir , H Holm , GI Eyjolfsson , O Sigurdardottir , I Olafsson , G Masson , DF Gudbjartsson , U Thorsteinsdottir , BV Halldorsson , SN Stacey , K Stefansson

To read the full abstract: Nat Genet 2018;50:1542–1552The authors analyse whole blood samples collected in participants of the Icelandic deCODE genetics studies in order to distinguish maternal genotype versus paternal genotype effects on gene expression and methylation in blood. The results provide a new map of imprinted methylation and gene expression patterns across the human gen...