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ey0015.9-7 | Growth, growth hormone and puberty in chronic diseases: novel insights from clinical practice | ESPEYB15

9.7 Growth outcomes after GH therapy of patients given long-term corticosteroids for Juvenile Idiopathic Arthritis

H David , C Aupiais , B Louveau , P Quartier , E Jacqz-Aigrain , JC Carel , D Simon

To read the full abstract: J Clin Endocrinol Metab. 2017;102:4578-4587In chronic inflammatory diseases, inflammatory cytokines and exogenous glucocorticoid exposure affect growth through systemic effects on the GH–IGF-1 axis and local effects on the growth plates. Low plasma IGF-1 levels are related to systemic GH insufficiency or to hepatic GH resistance. Changes in IGF binding proteins ha...

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ey0016.3-9 | Congenital Hypothyroidism | ESPEYB16

3.9. Early determinants of thyroid function outcomes in children with congenital hypothyroidism and a normally located thyroid gland: a regional Cohort Study

C Saba , S Guilmin-Crepon , D Zenaty , L Martinerie , A Paulsen , D Simon , C Storey , S Dos Santos , J Haignere , D Mohamed , JC Carel , J Leger

To read the full abstract: Thyroid. 2018;28:95967.This observational single center study aimed to identify predictors of transient versus permanent congenital hypothyroidism in patients with thyroid gland in situ diagnosed at birth. Strengths of the study are the prospectively documented clinical, biochemical and radiological parameters, the high inclusion rate, a...

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ey0016.7-13 | Clinical Guidance | ESPEYB16

7.13. High prevalence of syndromic disorders in patients with non-isolated central precocious puberty

S Wannes , M Elmaleh-Berges , D Simon , D Zenaty , L Martinerie , C Storey , G Gelwane , A Paulsen , E Ecosse , N De Roux , JC Carel , J Leger

To read the full abstract: Eur J Endocrinol. 2018 Dec 1;179(6):373380.This observational cohort study including children followed for central precocious puberty (CPP) in a single academic centre in Paris, France, identifies a large proportion of patients with complex disorders without structural hypothalamic lesions on MRI.Patients with CPP und...

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ey0020.14-8 | Section | ESPEYB20

14.8. Child health, developmental plasticity, and epigenetic programming

Z Hochberg , R Feil , M Constancia , M Fraga , C Junien , JC Carel , P Boileau , Y Le Bouc , CL Deal , K Lillycrop , R Scharfmann , A Sheppard , M Skinner , M Szyf , RA Waterland , DJ Waxman , E Whitelaw , K Ong , K Albertsson-Wikland

In Brief: This manuscript was prepared from presentations given at the ESPE New Inroads for Child Health (NICHe) conference held in May 2009 in Marstrand, Sweden. It reviewed the concept of plasticity in developmental programming and evidence for the role of epigenetic mechanisms. It became widely accepted as a leading reference on this topic with currently >750 citations in Google Scholar.Comment: Zeev Hochberg had a brilliant, creative mind. ...

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ey0018.4-6 | Growth Hormone Therapy: Safety | ESPEYB18

4.6. Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study

L Savendahl , R Cooke , A Tidblad , D Beckers , G Butler , S Cianfarani , P Clayton , J Coste , ACS Hokken-Koelega , W Kiess , CE Kuehni , K Albertsson-Wikland , A Deodati , E Ecosse , R Gausche , C Giacomozzi , D Konrad , F Landier , R Pfaeffle , G Sommer , M Thomas , S Tollerfield , GRJ Zandwijken , JC Carel , AJ Swerdlow

Lancet Diabetes Endocrinol. 2020;8(8):683692. doi: 10.1016/S2213-8587(20)30163-7. PMID: 32707116SAGhE is a large independent European consortium including eight different countries (Belgium, France, Germany, Italy, The Netherlands, Sweden, Switzerland, and the UK) which was set up to evaluate the long-term safety of rhGH in a large cohort (>24 000) of young adult patients t...

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ey0017.6-8 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

K McElreavey , A Jorgensen , C Eozenou , T Merel , J Bignon-Topalovic , DS Tan , D Houzelstein , F Buonocore , N Warr , RGG Kay , M Peycelon , JP Siffroi , I Mazen , JC Achermann , Y Shcherbak , J Leger , A Sallai , JC Carel , L Martinerie , R Le Ru , GS Conway , B Mignot , L Van Maldergem , R Bertalan , E Globa , R Brauner , R Jauch , S Nef , A Greenfield , A Bashamboo

To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdfMassive parallel sequencing of 145 46,XY DSD patients revealed 13 individuals with heterozygous missense pathogenic variants in the RNA helicase DHX37, explaining 11% of cases of 46,XY gonadal d...

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ESPE Yearbook of Paediatric Endocrinology

9.7 Growth outcomes after GH therapy of patients given long-term corticosteroids for Juvenile Idiopathic Arthritis

3.9. Early determinants of thyroid function outcomes in children with congenital hypothyroidism and a normally located thyroid gland: a regional Cohort Study

7.13. High prevalence of syndromic disorders in patients with non-isolated central precocious puberty

14.8. Child health, developmental plasticity, and epigenetic programming

4.6. Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study

6.8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

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