Hormone Resistance and Hypersensitivity

Description

Over recent years, impressive advances in genetic/epigenetic technology have greatly improved the understanding of the pathogenesis of pediatric endocrine diseases due to hormone resistance and hypersensitivity.This book presents reviews of thyroid hormone and thyroid hormone receptor resistance, and genetics and epigenetics of parathyroid hormone resistance. Abnormalities of the pituitary-gonadal axis affecting puberty as well as androgen receptor are covered. Novel insights into the diseases affecting ACTH, glucocorticoid and aldosterone receptors are discussed. Further chapters address new aspects of the physiology of the GH and IGF-1 axis as well as the diseases related to GH-IGF-1 receptor and post-receptor signaling defects. A key chapter on metabolic insights into insulin resistance is also included. Covering clinical and genetic aspects of hormone resistance and hypersensitivity, this book will be a useful tool in the hands of scientists, physicians and other healthcare professionals who wish to be up to date with novel research findings in this area.

Informations

• Publié par: S. Karger AG
• Date de parution: 04 février 2013
• Nombre de lectures: 0
• EAN13: 9783318022681
• Langue: English
• Poids de l'ouvrage: 2 Mo

Extrait

Hormone Resistance and Hypersensitivity From Genetics to Clinical Management

With an unrestricted educational grant from
Endocrine Development
Vol. 24
Series Editor
P.-E. Mullis Bern
Workshop, May 13-15, 2012, Genoa, Italy
Hormone Resistance and Hypersensitivity
From Genetics to Clinical Management
Volume Editors
Mohamad Maghnie Genoa
Sandro Loche Cagliari
Marco Cappa Rome
Lucia Ghizzoni Turin
Renata Lorini Genoa
26 figures, 7 in color, and 10 tables, 2013
Endocrine Development Founded 1999 by Martin O. Savage, London

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Mohamad Maghnie Department of Pediatrics IRCCS G. Gaslini University of Genoa Genoa, Italy
Sandro Loche Regional Hospital for Microcytaemia Cagliari, Italy
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Marco Cappa Department of Pediatrics Pediatric Hospital Bambino Gesù Rome, Italy
Lucia Ghizzoni Division of Endocrinology Diabetology and Metabolism Department of Internal Medicine University of Turin Turin, Italy
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Renata Lorini Department of Pediatrics IRCCS G. Gaslini University of Genova Genoa, Italy

Library of Congress Cataloging-in-Publication Data
Hormone resistance and hypersensitivity: from genetics to clinical management / volume editors, Mohamad Maghnie... [et al.].
p.;cm.-- (Endocrine development, ISSN 1421-7082 ; v. 24)
At head of title: Workshop, May 13-15, Genoa, Italy
"Meeting on hormone resistance and hypersensitivity - from genetics to clinical management held in Genoa, Italy, on May 13-15, 2012"--Pref.
Includes bibliographical references and indexes.
ISBN 978-3-318-02267-4 (hard cover: alk. paper) -- ISBN 978-3-318-02268-1 (electronic version)
I. Maghnie, Mohamad. II. Title: Workshop, May 13-15, Genoa, Italy. III. Series: Endocrine development; v. 24. 1421-7082.
[DNLM: 1. Endocrine System Diseases-physiopathology--Congresses. 2. Hormones-metabolism--Congresses. 3. Hypersensitivity-genetics-Congresses. W1 EN3635 v.24 2013 / WK 140]
616.4'061-dc23
2012046360
Bibliographic Indices. This publication is listed in bibliographic services, including Current Contents ® .
Disclaimer. The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publisher and the editor(s). The appearance of advertisements in the book 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.
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 change 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.
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.
© Copyright 2013 by S. Karger AG, P.O. Box, CH-4009 Basel (Switzerland)
www.karger.com
Printed in Germany on acid-free and non-aging paper (ISO 97069) by Kraft Druck, Ettlingen
ISSN 1421-7082
e-ISSN 1662-2979
ISBN 978-3-318-02267-4
e-ISBN 978-3-318-02268-1
Contents
Preface
Maghnie, M. (Genoa); Loche, S. (Cagliari); Cappa, M. (Rome); Ghizzoni, L. (Turin); Lorini, R. (Genoa)
Thyroid Hormone Transporters and Resistance
Visser, T.J. (Rotterdam)
Genetics and Epigenetics of Parathyroid Hormone Resistance
Bastepe, M. (Boston, Mass.)
Gonadotropin Resistance
Latronico, A.C.; Arnhold, I.J.P. (São Paulo)
Clinical and Molecular Aspects of Androgen Insensitivity
Hiort, O. (Lübeck)
Exploring the Molecular Mechanisms of Glucocorticoid Receptor Action from Sensitivity to Resistance
Ramamoorthy, S.; Cidlowski, J.A. (Research Triangle Park, N.C.)
ACTH Resistance: Genes and Mechanisms
Meimaridou, E.; Hughes, C.R.; Kowalczyk, J.; Chan, L.F.; Clark, A.J.L.; Metherell, L.A. (London)
Primary Generalized Familial and Sporadic Glucocorticoid Resistance (Chrousos Syndrome) and Hypersensitivity
Charmandari, E. (Athens/Bethesda, Md.); Kino, T. (Bethesda, Md.); Chrousos, G.P. (Athens/Bethesda, Md.)
Pseudohypoaldosteronism
Riepe, F.G. (Kiel)
New Aspects of the Physiology of the GH-IGF-1 Axis
Vottero, A. (Parma); Guzzetti, C.; Loche, S. (Cagliari)
Molecular and Clinical Aspects of GHRH Receptor Mutations
Corazzini, V.; Salvatori, R. (Baltimore, Md.)
Current Issues on Molecular Diagnosis of GH Signaling Defects
Feigerlova, E.; Hwa, V.; Derr, M.A.; Rosenfeld, R.G. (Portland, Oreg.)
Molecular IGF-1 and IGF-1 Receptor Defects: From Genetics to Clinical Management
Walenkamp, M.J.E. (Amsterdam); Losekoot, M.; Wit, J.M. (Leiden)
Phenotypes, Investigation and Treatment of Primary IGF-1 Deficiency
Savage, M.O. (London)
Human Congenital Perilipin Deficiency and Insulin Resistance
Kozusko, K.; Patel, S.; Savage, D.B. (Cambridge)
Author Index
Subject Index
Preface
Over recent years, a tremendous progress has been made in the field of hormone resistance. The meeting on Hormone Resistance and Hypersensitivity - From Genetics to Clinical Management held in Genoa, Italy, on May 13-15, 2012, provided a unique opportunity for an updated and prospective view of this exciting topic.
The scientific program was designed to focus on the most recent advances related to the various aspects of hormone resistance affecting a number of endocrine or target organs. The impressive advances in genetic/epigenetic technology have greatly improved our understanding of the pathogenesis of pediatric endocrine diseases due to hormone resistance or hypersensitivity, as well as our diagnostic skills. Careful characterization of the phenotype of patients with hormone resistance together with decades of efforts in translational research have led to relevant improvements in the care of affected patients.
Hormone resistance is in fact a condition caused by a reduced or absent end-organ responsiveness to a biologically active hormone, which may be due to a hormone receptor defect (e.g. for glucocorticoids, androgens, estrogens, vitamin D derivatives, thyroid hormones, thyroid-stimulating hormone, parathyroid hormone, antidiuretic hormone, insulin) or a post-receptor defect. This book introduces clinical and genetic aspects of hormone resistance through a number of breakthrough developments that illustrate how molecular defects at various steps in hormone production, signaling, or responsiveness can cause disease in humans.
The volume contains reviews of thyroid hormone and thyroid hormone receptor resistance and genetics and epigenetics of parathyroid hormone resistance. Abnormalities of the pituitary-gonadal axis affecting puberty as well as androgen receptor are covered. We have broadened our understanding of the diseases affecting ACTH, glucocorticoid and aldosterone receptors. New aspects of the physiology of the GH and IGF-1 axis as well as the diseases related to GH-IGF-1 receptor and post-receptor signaling defects are comprehensively addressed.
A key chapter on metabolic insights into insulin resistance is also included.
Overall, this volume provides information directly useful to the clinician, and stimulates thought and future research opportunities with cutting-edge scientific results in the broad and important field of hormone resistance.
Mohamad Maghnie , Genoa Sandro Loche , Cagliari Marco Cappa , Rome Lucia Ghizzoni , Turin Renata Lorini , Genoa
Maghnie M, Loche S, Cappa M, Ghizzoni L, Lorini R (eds): Hormone Resistance and Hypersensitivity. From Genetics to Clinical Management. Endocr Dev. Basel, Karger, 2013, vol 24, pp 1–10 (DOI: 10.1159/000343695)
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Thyroid Hormone Transporters and Resistance
Theo J. Visser
Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands
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Abstract
Cellular entry is an important step preceding intracellular metabolism and action of thyroid hormone (TH). Transport of TH across the plasma membrane does not take place by simple diffusion but requires transporter proteins. One of the most effective and specific TH transporters identified to date is monocarboxylate transporter 8 (MCT8), the gene of which is located on the X chromosome. Although MCT8 is expressed in many tissues, its function appears to be most critical in the brain. Hemizygous MCT8 mutations in males cause severe psychomotor retardation, known as the Allan-Herndon-Dudley syndrome (AHDS), and abnormal serum TH levels. AHDS thus represents a type of TH resistance caused by a defect in cellular TH transport.
Copyright © 2013 S. Karger AG, Basel
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