title: Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders.
abstract: Advances in the diagnosis and treatment of growth hormone insensitivity disorders have occurred in the past 15 years. We discuss the current status of endocrine and molecular evaluation, focusing on the pediatric age range. All the identified mutations of the growth hormone receptor are included. Treatment with recombinant human insulin-like growth factor (rhIGF) 1 in classical cases is summarized and new targets for treatment are discussed, together with therapy using the complex formed between rhIGF1 and rhIGF-binding protein 3.
authors.affiliation: Paediatric Endocrinology Unit, William Harvey Research Institute, St Bartholomew's Hospital and the London School of Medicine & Dentistry, London, UK. m.o.savage@qmul.ac.uk
authors.forename: Martin O
authors.initials: MO
authors.lastname: Savage
authors.forename: Kenneth M
authors.initials: KM
authors.lastname: Attie
authors.forename: Alessia
authors.initials: A
authors.lastname: David
authors.forename: Louise A
authors.initials: LA
authors.lastname: Metherell
authors.forename: Adrian J L
authors.initials: AJ
authors.lastname: Clark
authors.forename: Cecilia
authors.initials: C
authors.lastname: Camacho-Hübner
mesh_terms: D004703:Endocrine System / Q000503:physiopathology; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000627:therapeutic use*; D046150:Laron Syndrome / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D009154:Mutation; D011986:Receptors, Somatotropin / Q000235:genetics*
chemical_list: D011986:Receptors, Somatotropin; D007334:Insulin-Like Growth Factor I