Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes.
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.
Savage
Martin O
MO
Department of Endocrinology, William Harvey Research Institute, London, UK. m.o.savage@qmul.ac.uk
David
Alessia
A
Camacho-Hubner
Cecilia
C
Metherell
Louise A
LA
Clark
Adrian J L
AJ
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
D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I