ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 3 results

ey0018.4-13 | New Paradigms | ESPEYB18

4.13 A Genome-wide pharmacogenetic study of growth hormone responsiveness

A Dauber , Y Meng , L Audi , S Vedantam , B Weaver , A Carrascosa , K Albertsson-Wikland , M Ranke , A Jorge , J Cara , MP Wajnrajch , A Lindberg , C Camacho-Hübner , JN Hirschhorn

J Clin Endocrinol Metab. 2020;105:3203–3214. doi: 10.1210/clinem/dgaa443. PMID: 32652002The authors performed a large genome-wide association study (GWAS) to assess the role of common genetic variants in the response to GH therapy. A total of 614 children treated with GH were included: 276 with idiopathic GHD, 297 with ISS, and 41 born SGA. The findings implicate some novel mechanisms...
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ey0015.6-14 | New function of old genes | ESPEYB15

6.14 GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

I Martinez de LaPiscina , C de Mingo , S Riedl , A Rodriguez , AV Pandey , M Fernández-Cancio , N Camats , A Sinclair , L Castaño , L Audi , CE Flück

To read the full abstract: Front Endocrinol (Lausanne). 2018 Apr 4;9:142Here, Martinez de LaPiscina et.al. investigated gene-gene interactions in 46,XY DSD. GATA4 is known to be associated with 46,XY DSD and has also been described to cause congenital heart defects. The authors characterize 3 individuals with 46,XY DSD, and GATA4 variants; 1 patient with and 2 without congenital heart defects....
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ey0020.4-8 | Risk for Gonadal Malignancy and Gonadectomy in DSD | ESPEYB20

4.8. Consensus guide on prophylactic gonadectomy in different sex development

J Guerrero-Fernandez , P Gonzalez-Peramato , A Rodriguez Estevez , MJ Alcazar Villar , L Audi Parera , MC Azcona San Julian , A Carcavilla Urqui , LA Castano Gonzalez , JM Martos Tello , C Mora Palma , MF Moreno Macian , D Yeste Fernandez , M Nistal

Brief summary: This review article offers an update on knowledge on prophylactic gonadectomy in differences of sex development (DSDs) and evaluates the latest existing clinical evidence, which is generally limited, on risk of gonadal neoplasia potential in each group of DSDs.On average 15% of DSD patients with Y chromosome material predispose to gonadal neoplasms especially gonadal germ cell tumors (GGCTs); the overall risk ranges between 0.8% and 40% de...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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