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. KEY POINTS *

Growth hormone insensitivity disorders represent a broad category of clinical, endocrine and genetic abnormalities * A definitive list of the known mutations in the growth hormone receptor

that occur in patients with growth hormone insensitivity is included in this article * Recombinant human insulin-like growth factor 1, or the complex of recombinant human insulin-like growth

factor 1 plus insulin-like growth-factor-binding protein 3, is effective as growth-promoting therapy for children with growth hormone insensitivity disorders, and offers hope of long-term

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(2005). Tercica Inc., Brisbane, CA [www.increlex.com/pdf/increlex_pi.pdf] (accessed 8 March 2006) Download references AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Professor and Head of the

Paediatric Endocrinology Unit, Martin O Savage, Kenneth M Attie, Alessia David, Louise A Metherell, Adrian JL Clark & Cecilia Camacho-Hübner * Research Fellow and Specialist in Adult

Endocrinology, Martin O Savage, Kenneth M Attie, Alessia David, Louise A Metherell, Adrian JL Clark & Cecilia Camacho-Hübner * Postdoctoral Research Worker, Martin O Savage, Kenneth M

Attie, Alessia David, Louise A Metherell, Adrian JL Clark & Cecilia Camacho-Hübner * Academic Head of the Department of Endocrinology and Head of the Molecular Endocrinology Unit,

Professor of Medicine, Martin O Savage, Kenneth M Attie, Alessia David, Louise A Metherell, Adrian JL Clark & Cecilia Camacho-Hübner * Reader in Paediatric Endocrinology, all in the

William Harvey Research Institute, St Bartholomew's Hospital and the London School of Medicine & Dentistry, London, UK Martin O Savage, Kenneth M Attie, Alessia David, Louise A

Metherell, Adrian JL Clark & Cecilia Camacho-Hübner * Vice President Medical Affairs, Insmed Inc., Glen Allen, VA, USA Martin O Savage, Kenneth M Attie, Alessia David, Louise A

Metherell, Adrian JL Clark & Cecilia Camacho-Hübner Authors * Martin O Savage View author publications You can also search for this author inPubMed Google Scholar * Kenneth M Attie View

author publications You can also search for this author inPubMed Google Scholar * Alessia David View author publications You can also search for this author inPubMed Google Scholar * Louise

A Metherell View author publications You can also search for this author inPubMed Google Scholar * Adrian JL Clark View author publications You can also search for this author inPubMed 

Google Scholar * Cecilia Camacho-Hübner View author publications You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to Martin O Savage. ETHICS

DECLARATIONS COMPETING INTERESTS Martin O Savage is an Investigator in a Phase III study on effects of rhIGF–rhIGFBP3 (recombinant human insulin-like growth factor 1–rhIGF binding protein 3)

treatment in growth-hormone-insensitivity syndrome organized by Insmed Inc., Glen Allen, VA, USA. Keneth M Attie is Vice President Medical Affairs at Insmed Inc., Glen Allen, VA, USA. This

company is organizing a Phase III study of rhIGF1–rhIGFBP3 (recombinant human insulin-like growth factor 1–rhIGF binding protein 3) treatment of growth-hormone-insensitivity syndrome.

Cecilia Camacho-Hübner is a Principal Investigator in a Phase III study on effects of rhIGF1–rhIGFBP3 (recombinant human insulin-like growth factor 1–rhIGF binding protein 3) treatment in

growth-hormone-insensitivity syndrome organized by Insmed Inc., Glen Allen, VA, USA. RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Savage, M., Attie,

K., David, A. _et al._ Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders. _Nat Rev Endocrinol_ 2, 395–407 (2006).

https://doi.org/10.1038/ncpendmet0195 Download citation * Received: 21 November 2005 * Accepted: 08 March 2006 * Issue Date: July 2006 * DOI: https://doi.org/10.1038/ncpendmet0195 SHARE THIS

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