hrp0094p1-124 | Growth A | ESPE2021

Management of endocrine aspects of Noonan syndrome across Europe: A subanalysis of a European clinical practice survey

Edouard Thomas , Zenker Martin , Ostman-Smith Ingegerd , Ortega Castello Eduardo , Wolf Cordula , Burkitt-Wright Emma , Verloes Alain , Garcia-Minaur Sixto , Tartaglia Marco , Shaikh Guftar , Lebl Jan ,

Aim: There is a current lack of international guidelines for managing the endocrine aspects of Noonan syndrome (NS). A clinical practice survey was developed to identify knowledge gaps and differences in the management of patients with NS across Europe.Materials and Methods: A 60-question clinical practice survey was developed for clinical geneticists, paediatric endocrinologists and paediatric cardiologists directly involved in treating...

hrp0092p1-139 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Gonadal Function of Female Patients with Noonan Syndrome

Moniez Sophie , Capri Yline , Pienkowski Catherine , Lepage Benoit , Hamdi Safouane , Cartault Audrey , Oliver Isabelle , Jouret Béatrice , Diene Gwenaelle , Salles Jean-Pierre , Cavé Hélène , Verloes Alain , Tauber Maithé , Yart Armelle , Edouard Thomas

Background: Abnormalities in the hypothalamo-pituitary-gonadal axis have been reported in Noonan syndrome (NS) males but few data are available in female patients. Objective: The aim of this retrospective study was to evaluate the gonadal function of female patients with NS and to look for genotype-phenotype correlations. Patients and Methods: The study population included 19 girls/adolescents with a genetically confirmed diagnosis of NS and with available cli...