Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders
- 1 July 2006
- journal article
- review article
- Published by Springer Nature in Nature Clinical Practice Endocrinology & Metabolism
- Vol. 2 (7) , 395-407
- https://doi.org/10.1038/ncpendmet0195
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.Keywords
This publication has 52 references indexed in Scilit:
- Model for growth hormone receptor activation based on subunit rotation within a receptor dimerNature Structural & Molecular Biology, 2005
- Laron Syndrome (Primary Growth Hormone Resistance or Insensitivity): The Personal Experience 1958–2003Journal of Clinical Endocrinology & Metabolism, 2004
- Standard and low‐dose IGF‐I generation tests and spontaneous growth hormone secretion in children with idiopathic short statureClinical Endocrinology, 2004
- Identification of two novel mutations in the human growth hormone receptor geneJournal of Endocrinological Investigation, 2003
- Pulsatility of growth hormone (GH) signalling in liver cells: Role of the JAK-STAT5b pathway in GH actionGrowth Hormone & IGF Research, 2000
- Evidence for partial growth hormone insensitivity among patients with idiopathic short statureThe Journal of Pediatrics, 1995
- Growth Hormone (GH) Insensitivity Due to Primary GH Receptor DeficiencyEndocrine Reviews, 1994
- Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patientActa Paediatrica, 1994
- Structural design and molecular evolution of a cytokine receptor superfamily.Proceedings of the National Academy of Sciences, 1990
- Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism.Proceedings of the National Academy of Sciences, 1989