hrp0092p1-72 | GH and IGFs | ESPE2019

Diagnostic Value of Random Serum Growth Hormone (GH), IGF-I and IGFBP-3 Concentrations for the Diagnosis of Growth Hormone Deficiency (GHD) in Patients Below One Year of Life

Ballerini María Gabriela , Braslavsky Débora , Freire Analía Verónica , Keselman Ana , Rodríguez María Eugenia , Altube Mercedes , Scaglia Paula Alejandra , Bergadá Ignacio , Ropelato María Gabriela

GHD diagnosis in neonates and infants is a challenge owing to the fact that GH pharmacological stimulation tests (GHST) are not approved at this age. In a retrospective study, we found that a random GH<6.5 µg/L confirmed GHD diagnosis in neonates with clinical suspicion of GHD with high diagnostic accuracy (1). The accuracy of GH and its surrogates of action have not been set for infants with current standardized immunoassays.Objective</...

hrp0089fc4.1 | GH &amp; IGFs | ESPE2018

Monogenic and Digenic Gene Mutations are Present in Children with Idiopathic Short Stature (ISS)

Sanguineti Nora Maria , Ramirez Laura , Keselman Ana Claudia , Scaglia Paula Alejandra , Ropelato Maria Gabriela , Ballerini Maria Gabriela , Karabatas Liliana , Domene Sabina , Martucci Lucia , Braslavsky Debora , Landi Estefania , Cassinelli Hamilton , Casali Barbara , Rey Graciela Del , Pennisi Patricia , Jasper Hector , Vazquez Martin , Rey Rodolfo , Domene Horacio , Gutierrez Mariana , Bergada Ignacio

Background: Several genetic defects (GHR, SHOX, GHSR, NPR2, IGFALS) have been reported in children classified as ISS. ISS children are GH sufficient and about one third of them show low IGF-I levels, suggesting some degree of GH insensitivity.Objective: To explore potential genetic defects in ISS children suspicious of GH insensitivity, selected by low IGF-I levels and low response to IGF generation test.<...