Monogenic and digenic gene mutations are present in children with idiopathic short stature (ISS)

A KESELMAN; L RAMÍREZ; N SANGUINETI; M BALLERINI; P SCAGLIA; M ROPELATO; L MARTUCCI; L KARABATAS; S DOMENÉ; H CASSINELLI; E LANDI; D BRASLAVSKY; P PENNISSI; B CASALI; G DEL REY; R REY; H JASPER; M VÁZQUEZ; I BERGADÁ; H DOMENÉ; M GUTIÉRREZ

Congreso; 57th Annual Meeting of the 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