hrp0092fc12.1 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Increasing Knowledge in IGF1R Defects: Lessons from 20 New Patients

Giabicani Eloïse , Willems Marjorie , Steunou Virginie , Chantot-Bastaraud Sandra , Rossignol Sylvie , Le Bouc Yves , Netchine Irène , Brioude Frédéric

Background: IGF1R is a keystone of foetal growth regulation by mediating the effects of both IGF-I and IGF-II. Recently the first clinical cohort of patients carrying an IGF1R defect has been reported from which a clinical score was established for diagnosis. Since no external validation of this score is available we assessed it in a large cohort of patients with identified IGF1R defects. Furthermore we aim at setting-up a functional test to ...

hrp0092p1-80 | GH and IGFs | ESPE2019

Clinical Characteristics, Puberty Pattern and Adult or Near-adult-height Data in a Group of Patients with Growth Failure due to Severe Primary IGF-1 Deficiency (GROWPATI Study)

Stoupa Athanasia , Lorraud Christine , Flechtner Isabelle , Viaud Magali , Pinto Graziella , Samara-Boustani Dinane , Thalassinos Caroline , Brioude Frédéric , Netchine Irène , Amselem Serge , Legendre Marie , Polak Michel

Background: Severe primary insulin-growth factor-1 (IGF-1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF-1 levels (<2.5th percentile), height ≤ -3SDS, absence of growth hormone deficiency and of any secondary causes of growth failure.Objectives: Description of pubertal onset and growth spurt, data on adult or near-adult-he...