ESPE Abstracts

ESPE Abstracts

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hrp0089fc4.1 | GH & 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.<...
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ESPE Abstracts

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