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

NORA MARÍA SANGUINETI; LAURA RAMIREZ; ANA CLAUDIA KESELMAN; PAULA SCAGLIA; MARIA GABRIELA ROPELATO; MARIA GABRIELA BALLERINI; LILIANA KARABATAS; SABINA DOMENE; LUCIA MARTUCCI; DEBORA BRASLAVSKY; ESTEFANIA LANDI; HAMISLTON CASSINELLI; BARBARA CASALI; GRACIELA DEL REY; PATRICIA PENNISI; HECTOR JASPER; MARTIN VAZQUEZ; RODOLFO REY; HORACIO DOMENE; MARIANA GUTIERREZ; IGNACIO BERGADA

Congreso; European Society for Paediatric Endocrinology (ESPE); 2018

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. Subjects and Methods: Levels of IGF-I, IGFBP-3, and ALS were determined in 42 ISS children (34 males; 2.1-9.4 years old, height 4.8 µg/L). Those presenting IGF-I