| An Insulin-Like Growth Factor-I Receptor Defect Associated with Short Stature and Impaired Carbohydrate Homeostasis in an Italian Pedigree. | |
| | |
MedLine Citation:
|
PMID: 21811077 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
Background: Mutations in the insulin-like growth factor-I (IGF-I) receptor (IGF1R) have been associated with prenatal and postnatal growth retardation. However, little is known about potential effects of mutations in the IGF1R on carbohydrate homeostasis. Methods: We investigated clinical, endocrine and metabolic parameters in four family members carrying a novel IGF1R mutation (p.Tyr387X): an 18-year-old male (index case), his sister and two paternal aunts. Results: All family members showed a variable degree of impairment in prenatal growth, with birth weight standard deviation scores (SDS) between -1.65 and -2.37 and birth length SDS between -1.78 and -3.08. Their postnatal growth was also impaired, with height SDS between -1.75 and -4.86. The index case presented high IGF-I levels during childhood and adolescence and delayed bone age. The index case and his two paternal aunts had impaired glucose tolerance (IGT) associated with a variable degree of alterations in insulin sensitivity and secretion. In contrast, the index case's sister, who had had IGT during pregnancy, showed normal glucose metabolism but reduced insulin sensitivity. Conclusion: This is the first study showing an association between a novel IGF1R mutation and a variable degree of alterations in prenatal and postnatal growth and in carbohydrate metabolism. |
| | |
Authors:
|
A Mohn; M L Marcovecchio; T de Giorgis; R Pfaeffle; F Chiarelli; W Kiess |
Related Documents
:
|
12460047 - Prospective evaluation of the intra-access flow of recently created native arteriovenou... 15017527 - Angiotensin receptor blockers in diabetic nephropathy: renal and cardiovascular end poi... 19300247 - Early nephropathy in type 1 diabetes: the importance of early renal function decline. 21496327 - Proteasome modulator 9 and macrovascular pathology of t2d. 22521317 - Frequent insulin dosage adjustments based on glucose readings alone are sufficient for ... 19765757 - Restoring erectile function by antioxidant therapy in diabetic rats. |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2011-7-29 |
Journal Detail:
|
Title: Hormone research in paediatrics Volume: 76 ISSN: 1663-2826 ISO Abbreviation: - Publication Date: 2011 Jul |
Date Detail:
|
Created Date: 2011-8-3 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101525157 Medline TA: Horm Res Paediatr Country: - |
Other Details:
|
Languages: ENG Pagination: 136-143 Citation Subset: - |
Copyright Information:
|
Copyright © 2011 S. Karger AG, Basel. |
Affiliation:
|
Department of Pediatrics, University of Chieti, Chieti, Italy. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: PSEUDOMARKER: a powerful program for joint linkage and/or linkage disequilibrium analysis on mixture...
Next Document: Should eGFR and Albuminuria Be Added to the Framingham Risk Score? Chronic Kidney Disease and Cardio...