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