ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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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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ey0019.4-9 | New Perspectives | ESPEYB19

4.9. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

L Sentchordi-Montane , S Benito-Sanz , M Aza-Carmona , F Diaz-Gonzalez , S Modamio-Hoybjor , la Torre C De , J Nevado , P Ruiz-Ocana , C Bezanilla-Lopez , P Prieto , P Bahillo-Curieses , A Carcavilla , I Mulero-Collantes , AC Barreda-Bonis , J Cruz-Rojo , J Ramirez-Fernandez , de la Vega JA Bermudez , AM Travess , J Gonzalez de Buitrago Amigo , A Del Pozo , E Vallespin , M Solis , C Goetz , A Campos-Barros , F Santos-Simarro , I Gonzalez-Casado , P Ros-Perez , M Parron-Pajares , KE Heath

Eur J Endocrinol, 2021. 185(5): p. 691-705. PMID: 34516402Brief Summary: This study evaluated the prevalence of genetic variants in children with idiopathic short stature (ISS) using next-generation sequencing (NGS). Heterozygous variants in known genes involved in skeletal physiology were identified in almost 20% of children. The use of advanced genetic analysis techniques will lead to an increased identification of new genetic variants, expand...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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