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dc.contributor.authorSavage, MOen_US
dc.contributor.authorHwa, Ven_US
dc.contributor.authorDavid, Aen_US
dc.contributor.authorRosenfeld, RGen_US
dc.contributor.authorMetherell, LAen_US
dc.date.accessioned2016-05-09T14:15:20Z
dc.date.available2011-11-21en_US
dc.date.issued2011en_US
dc.date.submitted2016-03-01T14:53:46.697Z
dc.identifier.urihttp://qmro.qmul.ac.uk/xmlui/handle/123456789/12236
dc.description.abstractHuman genetic defects in the growth hormone (GH)-IGF-I axis affecting the IGF system present with growth failure as their principal clinical feature. This is usually associated with GH insensitivity (GHI) presenting in childhood as severe or mild short stature. Dysmorphic features and metabolic abnormalities may also be present. The field of GHI due to mutations affecting GH action has evolved rapidly since the first description of the extreme phenotype related to homozygous GH receptor (GHR) mutations in 1966. A continuum of genetic, phenotypic, and biochemical abnormalities can be defined associated with clinically relevant defects in linear growth. The mechanisms of the GH-IGF-I axis in the regulation of normal human growth is discussed followed by descriptions of mutations in GHR, STAT5B, IGF-I, IGFALS, IGF1R, and GH1 defects causing bio-inactive GH or anti-GH antibodies. These GH-IGF-I axis defects are associated with a range of clinical, and hormonal characteristics. An up-dated approach to the clinical assessment of the patient with GHI focusing on investigation of the GH-IGF-I axis and relevant molecular studies contributing to the identification of causative genetic defects is also discussed.en_US
dc.format.extent95 - ?en_US
dc.languageengen_US
dc.language.isoenen_US
dc.relation.ispartofFront Endocrinol (Lausanne)en_US
dc.rightsCC-BY-NC
dc.subjectchildhood linear growthen_US
dc.subjectgenetic defectsen_US
dc.subjectgrowth hormone insensitivityen_US
dc.subjectgrowth hormone–IGF-I axis mutationsen_US
dc.titleGenetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.en_US
dc.typeArticle
dc.rights.holder© 2011 Savage, Hwa, David, Rosenfeld and Metherell.
dc.identifier.doi10.3389/fendo.2011.00095en_US
pubs.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/22654835en_US
pubs.notesNot knownen_US
pubs.publication-statusPublished onlineen_US
pubs.volume2en_US
dcterms.dateAccepted2011-11-21en_US


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