Abstract Search

hrp0098fc7.1 | GH and IGFs | ESPE2024

Clinical characteristics and response to growth hormone treatment in 27 children and adolescents with pathogenic NPR2 variants

S. Renes Judith , M.J. Reedijk Ardine , M.C. Hendriks Yvonne , Bakker Boudewijn , M. Boot Annemieke , A. van Setten Petra , C.M. van der Kaay Daniëlle , C.S. Hokken-Koelega Anita , Losekoot Monique , A. van Duyvenvoorde Hermine , de Bruin Christiaan

Background: The NPR2 gene plays a critical role in the human growth plate. Pathogenic NPR2 variants can result in varying degrees of short stature. The majority of subjects have no specific clinical findings and are likely classified as idiopathic short stature.Objective: To describe the phenotypic spectrum, analyze genotype-phenotype correlations and assess the response and safety of growth hormone (GH...

2 shares

ESPE Abstracts

Clinical characteristics and response to growth hormone treatment in 27 children and adolescents with pathogenic NPR2 variants

BiosciAbstracts