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      Growth Hormone/IGF-I Axis and Growth Hormone Receptor Mutations in Idiopathic Short Stature

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          Abstract

          Background/Aims: It was hypothesized that some children with idiopathic short stature (ISS) may have partial insensitivity to growth hormone (GH). In this study analysis of the GH/IGF-I axis as well as GH receptor (GHR) gene was done in children with ISS to determine the possible underlying factor(s) to their short stature. Methods: Forty-eight patients with a diagnosis of ISS were studied; 33 boys and 15 girls aged 13.6 ± 3.7 years. Molecular analysis of the GHR was performed and GH sensitivity was tested by the IGF-I generation test. Results: Basal IGF-I levels were <–2 SD in 22.9%, and 53.5% showed an IGF-I response below 40% (0–38%) to GH stimulation. GH-binding protein (GHBP) levels were below the normative mean in almost all patients. Mutations in the region of the GHR gene that codes for the extracellular domain of the receptor were found in 15.5%; one newly described mutation was recorded. Conclusion: With the possible exception of the novel G62V mutation, functional studies of the other 2 heterozygous mutations found in 6 of our patients are needed in order to prove their impact on short stature.

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          Most cited references24

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          Tables for predicting adult height from skeletal age: revised for use with the Greulich-Pyle hand standards.

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            Human growth hormone and extracellular domain of its receptor: crystal structure of the complex

            Binding of human growth hormone (hGH) to its receptor is required for regulation of normal human growth and development. Examination of the 2.8 angstrom crystal structure of the complex between the hormone and the extracellular domain of its receptor (hGHbp) showed that the complex consists of one molecule of growth hormone per two molecules of receptor. The hormone is a four-helix bundle with an unusual topology. The binding protein contains two distinct domains, similar in some respects to immunoglobulin domains. The relative orientation of these domains differs from that found between constant and variable domains in immunoglobulin Fab fragments. Both hGHbp domains contribute residues that participate in hGH binding. In the complex both receptors donate essentially the same residues to interact with the hormone, even though the two binding sites on hGH have no structural similarity. Generally, the hormone-receptor interfaces match those identified by previous mutational analyses. In addition to the hormone-receptor interfaces, there is also a substantial contact surface between the carboxyl-terminal domains of the receptors. The relative extents of the contact areas support a sequential mechanism for dimerization that may be crucial for signal transduction.
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              Standards for children's height at ages 2-9 years allowing for heights of parents.

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                Author and article information

                Journal
                HRP
                Horm Res Paediatr
                10.1159/issn.1663-2818
                Hormone Research in Paediatrics
                S. Karger AG
                1663-2818
                1663-2826
                2011
                November 2011
                13 August 2011
                : 76
                : 5
                : 300-306
                Affiliations
                aDepartment of Pediatrics, Ain Shams University, Cairo, Egypt; bInstitute of Molecular Medicine ‘Angelo Nocivelli’, cDepartment of Pediatrics, University of Brescia, Brescia, and dDepartment of Pediatrics, University of Pavia, IRCCS San Matteo Foundation, Pavia, Italy
                Author notes
                *Heba H. Elsedfy, Department of Pediatrics, Ain Shams University, Abbasseya, Cairo 11566 (Egypt), Tel. +20 2 2258 4743, E-Mail hebased@yahoo.com
                Article
                330191 Horm Res Paediatr 2011;76:300–306
                10.1159/000330191
                21846964
                9bd3723f-77a2-489e-9444-7e51f34b6550
                © 2011 S. Karger AG, Basel

                Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                History
                : 10 August 2010
                : 16 June 2011
                Page count
                Figures: 3, Tables: 2, Pages: 7
                Categories
                Original Paper

                Endocrinology & Diabetes,Neurology,Nutrition & Dietetics,Sexual medicine,Internal medicine,Pharmacology & Pharmaceutical medicine
                Growth hormone-binding protein,Idiopathic short stature,IGF-I generation test,Growth hormone,Receptor mutations, growth hormone

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