title: Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes.
abstract: Major advances in the diagnosis and characterisation of growth hormone (GH) and IGF-I resistant disorders have occurred during the past 15 years. With these advances has come the realisation that there is broad phenotypic variation within these diagnostic categories. We discuss the current status of endocrine and molecular evaluation, focussing on the phenotypic characteristics of genetic defects in the GH-IGF-I axis.
authors.affiliation: Department of Endocrinology, William Harvey Research Institute, London, UK. m.o.savage@qmul.ac.uk
authors.forename: Martin O
authors.initials: MO
authors.lastname: Savage
authors.forename: Alessia
authors.initials: A
authors.lastname: David
authors.forename: Cecilia
authors.initials: C
authors.lastname: Camacho-Hubner
authors.forename: Louise A
authors.initials: LA
authors.lastname: Metherell
authors.forename: Adrian J L
authors.initials: AJ
authors.lastname: Clark
mesh_terms: D006130:Growth Disorders / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology*; D019382:Human Growth Hormone / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010641:Phenotype
chemical_list: D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I