ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 4 results

ey0019.6-9 | Basic and Genetic Research of DSD | ESPEYB19

6.9. Whole exome sequencing reveals copy number variants in individuals with disorders of sex development

R Sreenivasan , K Bell , den Bergen J van , G Robevska , D Belluoccio , R Dahiya , GM Leong , J Dulon , P Touraine , EJ Tucker , K Ayers , A Sinclair

Mol Cell Endocrinol. 2022 Apr 15;546:111570. PMID: 35051551, doi: 10.1016/j.mce.2022.111570. Brief Summary: This report emphasizes the importance of screening for copy number variants (CNVs) using parallel genomic techniques for diagnosing unsolved cases of complete androgen insensitivity syndrome (CAIS) as well as other DSDs, where traditional sequencing techniques fail to detect a genetic...
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ey0018.8-3 | Important for Clinical Practice | ESPEYB18

8.3. Modified-release hydrocortisone in congenital adrenal hyperplasia

DP Merke , A Mallappa , W Arlt , A Brac de la Perriere , A Linden Hirschberg , A Juul , J Newell-Price , CG Perry , A Prete , DA Rees , N Reisch , N Stikkelbroeck , P Touraine , K Maltby , FP Treasure , J Porter , RJ Ross

J Clin Endocrinol Metab 2021; 106(5): e2063–e2077.https://pubmed.ncbi.nlm.nih.gov/33527139/The authors report the findings of a 6-month, randomized, phase 3 trial, with a single arm extension, to investigate the efficacy, safety and tolerability of modified release hydrocortisone (MC-HC) replacement therapy versus standard glucocorticoid replacement therapy in 122 adult patients with c...
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ey0019.6-1 | Sex Hormone Replacement Therapies in DSD | ESPEYB19

6.1. Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline

A Nordenstrom , SF Ahmed , den Akker E van , J Blair , M Bonomi , C Brachet , LHA Broersen , der Grinten HL Claahsen-van , AB Dessens , A Gawlik , CH Gravholt , A Juul , C Krausz , T Raivio , A Smyth , P Touraine , D Vitali , OM Dekkers

Eur J Endocrinol. 2022 Apr 21;186(6):G9-G49. PMID: 35353710, doi: 10.1530/EJE-22-0073.Brief Summary: This Endo-European Reference Network guideline was endorsed by the European Society for Pediatric Endocrinology, the European Society for Endocrinology, and the European Academy of Andrology. It provides extensive data on the hormonal management in young individuals with hypogonadism or DSD in nee...
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ey0019.9-1 | Cancer treatment and growth hormone therapy: a consensus | ESPEYB19

9.1. Safety of growth hormone replacement in survivors of cancer and intracranial and pituitary tumours: a consensus statement

MCS Boguszewski , CL Boguszewski , W Chemaitilly , LE Cohen , J Gebauer , C Higham , AR Hoffman , M Polak , KCJ Yuen , N Alos , Z Antal , M Bidlingmaier , BMK Biller , G Brabant , CSY Choong , S Cianfarani , PE Clayton , R Coutant , AA Cardoso-Demartini , A Fernandez , A Grimberg , K Guðmundsson , J Guevara-Aguirre , KKY Ho , R Horikawa , AM Isidori , JOL Jorgensen , P Kamenicky , N Karavitaki , JJ Kopchick , M Lodish , X Luo , AI McCormack , L Meacham , S Melmed , Moab S Mostoufi , HL Muller , SJCMM Neggers , Oliveira MH Aguiar , K Ozono , PA Pennisi , V Popovic , S Radovick , L Savendahl , P Touraine , HM van Santen , G Johannsson

n.karavitaki@bham.ac.uk Eur J Endocrinol. 2022; 186: P35-P52. PMID: 35319491.Brief Summary: An international panel of experts produced this consensus statement after critical review of the existing evidence on the safety of GH replacement in cancer and intracranial tumour survivors and in patients with increased cancer risk. Current evidence does not support an association betwe...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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