Congenital Endocrinopathies
New Insights into Endocrine Diseases and Diabetes
Workshop, Genova, January 2007
Editor(s): Lorini, R. (Genova) Maghnie, M. (Genova)
D'Annunzio, G. (Genova)
Loche, S. (Cagliari)
Savage, M.O. (London)
Growth Hormone Receptor PolymorphismsControversies and Outcome of Growth Hormone Treatment
Buzi F.a · Mella P.b · Pilotta A.a · Prandi E.a · Lanfranchi F.a · Carapella T.a
aCentro di Auxoendocrinologia, Department of Paediatrics, and bIstituto di Medicina Molecolare A. Nocivelli, University of Brescia, Brescia, Italy
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Article / Publication Details
Published online: November 07, 2007
Cover Date: 2007
Number of Print Pages: 8
Number of Figures: 0
Number of Tables: 0
ISBN: 978-3-8055-8347-3 (Print)
eISBN: 978-3-8055-8348-0 (Online)
Abstract
Many variables influence the outcome of growth hormone (GH) therapy (GH dose and duration, height - SDS at treatment start or at puberty onset, bone age, mid parental height, growth velocity, age, etc.). Nevertheless, all these factors only partially explain the interindividual variability in response to GH in GH deficiency (GHD) and in short non-GHD subjects. To this regard, genes coding for factors involved in GH action could play an important role. GH acts through the GH receptor (GHR), and therefore the GHR gene could be the first candidate to influence the response to GH. Polymorphisms of the GHR have been described in exons 3, 6 and 10. The first one consists in the deletion (d3) or retention (fl) of the entire exon 3. The d3 polymorphism has been recently associated with a better growth response to GH in idiopathic short stature subjects and in short children born small for gestational age. Subsequent studies on the same and other categories of short children (idiopathic short stature, small for gestational age, GHD, Turner syndrome) have reported controversial results, with some confirming the role of d3 and others showing no effect. This review analyses these studies trying to explain the apparent discrepancies, mainly due to different selection criteria and different dose regimens in treating GHD and non-GHD short subjects.
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Article / Publication Details
Published online: November 07, 2007
Cover Date: 2007
Number of Print Pages: 8
Number of Figures: 0
Number of Tables: 0
ISBN: 978-3-8055-8347-3 (Print)
eISBN: 978-3-8055-8348-0 (Online)
Copyright / Drug Dosage / Disclaimer
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.
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