Pediatric Adrenal Diseases

Description

Written by experts and specialized investigators, this book presents a detailed overview of the recent progress in our understanding of the adrenal cortex and its pivotal roles in homeostasis. Genes, molecules and cell compartments directly or indirectly involved in the complex steroidogenesis pathway as well as the resulting end-hormones glucocorticoids, mineralocorticoids and androgens are analyzed. Furthermore, the defects of the genes responsible both for common and rare adrenal disorders are presented. The interactions of the adrenal cortices with the adrenal medulla and their importance in the integration of adrenocortical and adrenomedullary function are discussed. The complex molecular pathophysiology of congenital adrenal hyperplasia is presented; long-term effects of the disorder and the still controversial antenatal therapy are examined. Finally, expert review chapters discuss autoimmune Addison disease and the adrenoleukodystrophy/adrenomyeloneuropathy syndrome.Presenting novel research findings in adrenal gland physiology and pathophysiology, this book is a useful tool not only for pediatric endocrinologists, but also for clinicians and researchers studying human development, organogenesis, mitochondrial biology, nuclear receptors, stress biology and pharmacology.

Informations

• Publié par: S. Karger AG
• Date de parution: 17 décembre 2010
• Nombre de lectures: 0
• EAN13: 9783805596442
• Langue: English
• Poids de l'ouvrage: 2 Mo

Extrait

Pediatric Adrenal Diseases
With an unrestricted educational grant from
Endocrine Development
Vol. 20
Series Editor
P.-E. Mullis     Bern
 
Workshop, May 16—18, 2010, Turin (Italy)
Pediatric Adrenal Diseases
Volume Editors
Lucia Ghizzoni     Turin
Marco Cappa     Rome
George Chrousos     Athens
Sandro Loche     Cagliari
Mohamad Maghnie     Genova
55 figures, 14 in color, and 11 tables, 2011
Endocrine Development
Founded 1999 by Martin O. Savage, London
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Lucia Ghizzoni Division of Endocrinology Diabetology and Metabolism Department of Internal Medicine University of Turin Turin, Italy
Marco Cappa Department of Pediatrics Pediatric Hospital Bambino Gesù Rome, Italy
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George Chrousos Choremeion Research Laboratory First Department of Pediatrics Athens University Medical School Athens, Greece
Sandro Loche Regional Hospital for Microcytaemia Cagliari, Italy
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Mohamad Maghnie Department of Pediatrics IRCCS G. Gaslini University of Genova Genova, Italy

Library of Congress Cataloging-in-Publication Data
Pediatric adrenal diseases: workshop, May 16-18, 2010, Turin (Italy) / volume editors, Lucia Ghizzoni … [et al.].
p. ; cm. – –(Endocrine development, ISSN 1421-7082 ; v. 20)
Includes bibliographical references and indexes.
ISBN 978-3-8055-9643-5 (hard cover: alk. paper) – – ISBN 978-3-8055-9644-2 (e-ISBN)
1. Pediatric endocrinology– –Congresses. 2. Children– –Diseases– –Congresses. I. Ghizzoni, Lucia. II. Series: Endocrine development ; v. 20. 1421-7082
[DNLM: 1. Adrenal Gland Diseases– –Congresses. 2. Adrenal Glands– –Congresses. 3. Child. W1 EN3635 v.20 2011 / WK 700]
RJ482.G76P44 2011
618.92'4–dc22
2010044943
Bibliographic Indices. This publication is listed in bibliographic services, including Current Contents® and Index Medicus.
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 2011 by S. Karger AG, P.O. Box, CH–4009 Basel (Switzerland)
www.karger.com
Printed in Switzerland on acid-free and non-aging paper (ISO 9706) by Reinhardt Druck, Basel
ISSN 1421–7082
ISBN 978–3–8055–9643–5
e-ISBN 978–3–8055–9644–2
 
Contents
Preface
Ghizzoni, L. (Turin); Cappa, M. (Rome); Chrousos, G. (Athens); Loche, S. (Cagliari); Maghnie, M. (Genova)
Role of Mitochondria in Steroidogenesis
Miller, W.L. (San Francisco, Calif.)
The Physiology and Biochemistry of Adrenarche
Auchus, R.J. (Dallas, Tex.)
Update on the Corticomedullary Interaction in the Adrenal Gland
Haase, M.; Willenberg, H.S. (Duesseldorf); Bornstein, S.R. (Dresden)
Role of DAX-1 ( NR0B1 ) and Steroidogenic Factor-1 ( NR5A1 ) in Human Adrenal Function
El-Khairi, R.; Martinez-Aguayo, A.; Ferraz-de-Souza, B.; Lin, L.; Achermann, J.C. (London)
Functional and Physiological Consequences of StAR Deficiency: Role in Lipoid Congenital Adrenal Hyperplasia
King, S.R. (Lubbock, Tex.); Bhangoo, A. (Brooklyn, N.Y.); Stocco, D.M. (Lubbock, Tex.)
P450 Side-Chain Cleavage Deficiency–A Rare Cause of Congenital Adrenal Hyperplasia
Hauffa, B. (Lübeck); Hiort, O. (Duisburg-Essen)
Clinical and Biochemical Consequences of P450 Oxidoreductase Deficiency
Flück, C.E.; Pandey, A.V. (Bern)
Molecular Genetics of 21-Hydroxylase Deficiency
Wedell, A. (Stockholm)
Brain Development and Cognitive, Psychosocial, and Psychiatric Functioning in Classical 21-Hydroxylase Deficiency
Meyer-Bahlburg, H.F.L. (New York, N.Y.)
Long-Term Outcome of Prenatal Dexamethasone Treatment of 21-Hydroxylase Deficiency
Lajic, S.; Nordenström, A.; Hirvikoski, T. (Stockholm)
Role of Genetic Variation in Regulation of Aldosterone Biosynthesis
Alvarez-Madrazo, S. (Glasgow); Connell, J.M. (Dundee); Freel, E.M. (Glasgow)
Circadian CLOCK-Mediated Regulation of Target-Tissue Sensitivity to Glucocorticoids: Implications for Cardiometabolic Diseases
Kino, T. (Bethesda, Md.); Chrousos, G.P. (Athens)
Glucocorticoid Resistance
van Rossum, E.F.C.; van den Akker, E.L.T. (Rotterdam)
Mineralocorticoid Receptor Gene Variants as Determinants of HPA Axis Regulation and Behavior
DeRijk, R.H.; de Kloet, E.R.; Zitman, F.G.; van Leeuwen, N. (Leiden)
Adrenoleukodystrophy
Cappa, M.; Bizzarri, C.; Vollono, C. (Roma); Petroni, A. (Milano); Banni, S. (Cagliari)
Autoimmune Addison's Disease
Betterle, C.; Morlin, L. (Padova)
Optimal Glucocorticoid Therapy
Debono, M.; Ross, R.J. (Sheffield)
Modulation of Glucocorticoid Metabolism by the GH-IGF-I Axis
Neggers, S.J.C.M.M.; van der Lely, A.J. (Rotterdam)
Effects of Glucocorticoids on the Growth Plate
Lui, J.C.; Baron, J. (Bethesda, Md.)
Growth Hormone Treatment in Children on Chronic Glucorticoid Therapy
Savage, M.O. (London); Simon, D.; Czernichow, P.C. (Paris)
Ancient History of Congenital Adrenal Hyperplasia
New, M.I. (New York, N.Y.)
Author Index
Subject Index
 
Preface
In the last few years, rapid progress has taken place in our understanding of the adrenal cortex and its pivotal roles in homeostasis. This book emanated from the proceedings of a recent, cutting-edge international meeting in Turin, Italy, and represents the state of the art in the adrenal field. Articles cover the entire area, from the physiology to molecular and cell biology and pathophysiology perspectives, and were written by respected experts and active investigators in each subarea.
The steroidogenesis pathway results in the manufacturing of glucocorticoids, mineralocorticoids and androgens in the layers of the adrenal cortices of humans and/ or rodents. The genes, molecules, and cell compartments, such as the endoplasmic reticulum and the mitochondria, that are directly or indirectly involved in this highly complex and vital biochemical path, have been elucidated and presented with clarity in the book. Furthermore, the defects of the genes responsible for relatively common and rare or extremely rare adrenal disorders have been unraveled and presented in individual chapters. Two novel discoveries, one on the P450 oxidoreductase deficiency and the other on P450 side-chain cleavage deficiency, are included in separate chapters.
Our knowledge of the interactions of the adrenal cortices with the adrenal medulla and their importance in the integration of adrenocortical and adrenomedullary function have been further refined. Also, the ability of the adrenal cortex to retain an exquisite balance between adrenocortical stem cell differentiation and growth and steroidogenic cell apoptosis, tightly coupled to the needs of the organism at the resting and stress states, has been better understood. Excellent chapters on these issues have been included in the book. Furthermore, the key adrenal organogenesis transcription factors have been identified and assigned roles in the physiology and pathophysiology of the adrenal cortex, and this area is succinctly and clearly presented in the corresponding chapters.
We have furthered our understanding of the most common disease of the adrenal cortices, congenital adrenal hyperplasia due to 21-hydroxylase deficiency. In this book, an update of the complex molecular pathophysiology of the disorder is presented, while the still controversial antenatal therapy of the condition with dexamethasone is discussed. Furthermore, the long-term effects of the disorder on brain development and function are analyzed.
In the book, the end-hormones of the hypothalamic-pituitary-adrenal (HPA) axis glucocorticoids and androgens and those of the renin-angiotensin system, mineralocorticoids, are discussed from several perspectives. Thus, glucocorticoid therapy refinements in the treatment of adrenal insufficiency and the mechanism of th