Searchable abstracts of presentations at key conferences in endocrinology

ea0045oc6.6 | Oral Communications 6- Endocrine | BSPED2016

Predictive factors of an underlying genetic defect in children with short stature and suspected growth hormone insensitivity (GHI)

Chatterjee Sumana , Shapiro Lucy , Davies Kate M , Savage Martin O , Metherell Louise A , Storr Helen L

Background: GH insensitivity (GHI) presents with growth failure, IGF-1 deficiency and normal/elevated GH (basal >5 μg/l and/or peak >10 μg/l). GHI encompasses a spectrum of clinical and biochemical abnormalities. Associations between phenotypic characteristics and genetic defects remain obscure.Objective: Identify phenotypic predictors of underlying genetic defects in GHI.Methods: In total of 102 children (62M) me...