Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders
This Review describes the many clinical, endocrine and genetic abnormalities that cause growth hormone (GH) insensitivity disorders, listing all the known GH-receptor mutations and describing the current therapy with insulin-like growth factor 1 (IGF1) and a novel therapy using complexes of IGF1 and...
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| Veröffentlicht in: | Nature clinical practice. Endocrinology & metabolism 2006-07, Vol.2 (7), p.395-407 |
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| container_title | Nature clinical practice. Endocrinology & metabolism |
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| creator | Savage, Martin O Attie, Kenneth M David, Alessia Metherell, Louise A Clark, Adrian JL Camacho-Hübner, Cecilia |
| description | This Review describes the many clinical, endocrine and genetic abnormalities that cause growth hormone (GH) insensitivity disorders, listing all the known GH-receptor mutations and describing the current therapy with insulin-like growth factor 1 (IGF1) and a novel therapy using complexes of IGF1 and IGF-binding protein 3.
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 benefits |
| doi_str_mv | 10.1038/ncpendmet0195 |
| format | Article |
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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 benefits</description><identifier>ISSN: 1745-8366</identifier><identifier>ISSN: 1759-5029</identifier><identifier>EISSN: 1745-8374</identifier><identifier>EISSN: 1759-5037</identifier><identifier>DOI: 10.1038/ncpendmet0195</identifier><identifier>PMID: 16932322</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Endocrine System - physiopathology ; Endocrinology ; Etiology ; Growth hormones ; Humans ; Insulin ; Insulin-Like Growth Factor I - therapeutic use ; Insulin-like growth factors ; Laron Syndrome - diagnosis ; Laron Syndrome - drug therapy ; Laron Syndrome - genetics ; Liver diseases ; Malnutrition ; Medicine ; Medicine & Public Health ; Mutation ; Pediatrics ; Proteins ; Receptors, Somatotropin - genetics ; review-article ; Signal transduction</subject><ispartof>Nature clinical practice. Endocrinology & metabolism, 2006-07, Vol.2 (7), p.395-407</ispartof><rights>Springer Nature Limited 2006</rights><rights>COPYRIGHT 2006 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Jul 2006</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c425t-c8c4266485b2b035986b2804177a0c405646705fa03d2d63161ef582ee7b53493</citedby><cites>FETCH-LOGICAL-c425t-c8c4266485b2b035986b2804177a0c405646705fa03d2d63161ef582ee7b53493</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16932322$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Savage, Martin O</creatorcontrib><creatorcontrib>Attie, Kenneth M</creatorcontrib><creatorcontrib>David, Alessia</creatorcontrib><creatorcontrib>Metherell, Louise A</creatorcontrib><creatorcontrib>Clark, Adrian JL</creatorcontrib><creatorcontrib>Camacho-Hübner, Cecilia</creatorcontrib><title>Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders</title><title>Nature clinical practice. Endocrinology & metabolism</title><addtitle>Nat Rev Endocrinol</addtitle><addtitle>Nat Clin Pract Endocrinol Metab</addtitle><description>This Review describes the many clinical, endocrine and genetic abnormalities that cause growth hormone (GH) insensitivity disorders, listing all the known GH-receptor mutations and describing the current therapy with insulin-like growth factor 1 (IGF1) and a novel therapy using complexes of IGF1 and IGF-binding protein 3.
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 benefits</description><subject>Endocrine System - physiopathology</subject><subject>Endocrinology</subject><subject>Etiology</subject><subject>Growth hormones</subject><subject>Humans</subject><subject>Insulin</subject><subject>Insulin-Like Growth Factor I - therapeutic use</subject><subject>Insulin-like growth factors</subject><subject>Laron Syndrome - diagnosis</subject><subject>Laron Syndrome - drug therapy</subject><subject>Laron Syndrome - genetics</subject><subject>Liver diseases</subject><subject>Malnutrition</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mutation</subject><subject>Pediatrics</subject><subject>Proteins</subject><subject>Receptors, Somatotropin - genetics</subject><subject>review-article</subject><subject>Signal transduction</subject><issn>1745-8366</issn><issn>1759-5029</issn><issn>1745-8374</issn><issn>1759-5037</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNptkc1rFTEUxYMotlaXbiUguHJqPiYfsyylrULBja5DJrnzXspM8kwySv3rzaMPn5WSxQ3J756c3IPQW0rOKeH6U3Q7iH6BSuggnqFTqnrRaa7653_3Up6gV6XcEdJrRulLdELlwBln7BRtr6JPLocI2JYCpSwQ60e8pBncOtuM3dZm6yrk8NvWkCK20eOawdY9idOENzn9qlu8TXlJTSbEArGEGn6Geo99KCl7yOU1ejHZucCbQz1D36-vvl1-7m6_3ny5vLjtXM9E7ZxuVcpei5GNhItBy5Fp0lOlLHE9EbKXiojJEu6Zl5xKCpPQDECNgvcDP0MfHnR3Of1YoVSzhOJgnm2EtBYjtRqY0KSB7_8D79KaY_NmqNJKqEEwdqQ2dgYT4pRqG8de0lxQrRWXg9g_ev4E1ZaHJbg2lSm080cN3UODy6mUDJPZ5bDYfG8oMftczaNcG__uYHYdF_BH-hDk0UFpV3ED-Z_fPKn4BxZer4o</recordid><startdate>20060701</startdate><enddate>20060701</enddate><creator>Savage, Martin O</creator><creator>Attie, Kenneth M</creator><creator>David, Alessia</creator><creator>Metherell, Louise A</creator><creator>Clark, Adrian JL</creator><creator>Camacho-Hübner, Cecilia</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20060701</creationdate><title>Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders</title><author>Savage, Martin O ; Attie, Kenneth M ; David, Alessia ; Metherell, Louise A ; Clark, Adrian JL ; Camacho-Hübner, Cecilia</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c425t-c8c4266485b2b035986b2804177a0c405646705fa03d2d63161ef582ee7b53493</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Endocrine System - physiopathology</topic><topic>Endocrinology</topic><topic>Etiology</topic><topic>Growth hormones</topic><topic>Humans</topic><topic>Insulin</topic><topic>Insulin-Like Growth Factor I - therapeutic use</topic><topic>Insulin-like growth factors</topic><topic>Laron Syndrome - diagnosis</topic><topic>Laron Syndrome - drug therapy</topic><topic>Laron Syndrome - genetics</topic><topic>Liver diseases</topic><topic>Malnutrition</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mutation</topic><topic>Pediatrics</topic><topic>Proteins</topic><topic>Receptors, Somatotropin - genetics</topic><topic>review-article</topic><topic>Signal transduction</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Savage, Martin O</creatorcontrib><creatorcontrib>Attie, Kenneth M</creatorcontrib><creatorcontrib>David, Alessia</creatorcontrib><creatorcontrib>Metherell, Louise A</creatorcontrib><creatorcontrib>Clark, Adrian JL</creatorcontrib><creatorcontrib>Camacho-Hübner, Cecilia</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Nature clinical practice. Endocrinology & metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Savage, Martin O</au><au>Attie, Kenneth M</au><au>David, Alessia</au><au>Metherell, Louise A</au><au>Clark, Adrian JL</au><au>Camacho-Hübner, Cecilia</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders</atitle><jtitle>Nature clinical practice. Endocrinology & metabolism</jtitle><stitle>Nat Rev Endocrinol</stitle><addtitle>Nat Clin Pract Endocrinol Metab</addtitle><date>2006-07-01</date><risdate>2006</risdate><volume>2</volume><issue>7</issue><spage>395</spage><epage>407</epage><pages>395-407</pages><issn>1745-8366</issn><issn>1759-5029</issn><eissn>1745-8374</eissn><eissn>1759-5037</eissn><abstract>This Review describes the many clinical, endocrine and genetic abnormalities that cause growth hormone (GH) insensitivity disorders, listing all the known GH-receptor mutations and describing the current therapy with insulin-like growth factor 1 (IGF1) and a novel therapy using complexes of IGF1 and IGF-binding protein 3.
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 benefits</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>16932322</pmid><doi>10.1038/ncpendmet0195</doi><tpages>13</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1745-8366 |
| ispartof | Nature clinical practice. Endocrinology & metabolism, 2006-07, Vol.2 (7), p.395-407 |
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| source | MEDLINE; Springer Nature - Complete Springer Journals; Nature Journals Online |
| subjects | Endocrine System - physiopathology Endocrinology Etiology Growth hormones Humans Insulin Insulin-Like Growth Factor I - therapeutic use Insulin-like growth factors Laron Syndrome - diagnosis Laron Syndrome - drug therapy Laron Syndrome - genetics Liver diseases Malnutrition Medicine Medicine & Public Health Mutation Pediatrics Proteins Receptors, Somatotropin - genetics review-article Signal transduction |
| title | Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders |
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