| Congenital syndromes of severe insulin resistance. | |
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MedLine Citation:
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PMID: 21525795 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Rare syndromes of severe insulin resistance (IR), caused by genetic defects in canonical insulin signalling or adipose tissue development, place patients at high, early risk of adverse clinical complications but are clinically challenging to manage. Prompt evaluation and diagnosis of these individuals not only facilitates more appropriate intervention but, together with identification of the underlying genetic defects, may provide valuable mechanistic insights into the pathogenesis of rare as well as common, obesity-associated IR. Although diagnosis of these syndromes is complicated by the variability of their natural history, several presenting features are common to all severe IR syndromes including disturbed glucose metabolism (either hypoglycaemia or hyperglycaemia), acanthosis nigricans and severe ovarian dysfunction in lean individuals. These features may be evident at birth, or appear during childhood or adolescence, so their recognition by paediatricians is essential. Here we review the general and specific features of syndromes of severe IR, summarise their classification, and recommend strategies for their subsequent investigation. |
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Authors:
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Isabel Huang-Doran; David B Savage |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Pediatric endocrinology reviews : PER Volume: 8 ISSN: 1565-4753 ISO Abbreviation: Pediatr Endocrinol Rev Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-04-28 Completed Date: 2011-06-02 Revised Date: 2012-03-27 |
Medline Journal Info:
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Nlm Unique ID: 101202124 Medline TA: Pediatr Endocrinol Rev Country: Israel |
Other Details:
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Languages: eng Pagination: 190-9 Citation Subset: IM |
Affiliation:
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Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acanthosis Nigricans
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genetics Blood Glucose / metabolism Female Homeostasis / genetics Humans Hyperandrogenism / genetics Insulin / metabolism Insulin Resistance / genetics* Lipodystrophy, Familial Partial / genetics Male Mutation Receptor, Insulin / genetics Signal Transduction / genetics Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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091551//Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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0/Blood Glucose; 0/Insulin; EC 2.7.10.1/Receptor, Insulin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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