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241 pages

English

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This book presents a comprehensive overview of pediatric thyroid diseases and thus provides a useful tool for clinical problem solving. Opinion leaders in the field present reviews on all relevant diseases of the hypothalamic-pituitary-thyroid axis. Sixteen chapters cover topics ranging from fetal thyroidology, congenital hypothyroidism, central hypothyroidism, inherited defects of thyroid hormone action, cell transport and metabolism to iodine deficiency, autoimmune thyroid disease and thyroid tumors. Written by clinicians, the chapters provide in-depth information and current guidelines for clinical problems encountered in pediatric thyroidology. As a unique feature, a case seminar collection for each chapter presents typical patient histories providing key learning points and key references for clinical problem solving in family medicine, pediatric endocrinology and medical genetics. Providing a succinct update on clinical pediatric thyroidology, this book is an essential tool for pediatric and adult endocrinologists, as well as for general practitioners, pediatricians and medical geneticists.

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Publié par	S. Karger AG
Date de parution	15 septembre 2014
Nombre de lectures	1
EAN13	9783318027211
Langue	English
Poids de l'ouvrage	2 Mo

Informations légales : prix de location à la page 0,0582€. Cette information est donnée uniquement à titre indicatif conformément à la législation en vigueur.

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Paediatric Thyroidology
Endocrine Development
Vol. 26
Series Editor
P.-E. Mullis Bern
Paediatric Thyroidology

Volume Editor
Gabor Szinnai Basel
51 figures, 17 in color, and 26 tables, 2014
Endocrine Development Founded 1999 by Martin O. Savage, London _______________________ Gabor Szinnai Paediatric Endocrinology University Children's Hospital Basel UKBB Spitalstrasse 33 CH-4031 Basel Switzerland
Library of Congress Cataloging-in-Publication Data
Paediatric thyroidology / volume editor, Gabor Szinnai.
p.;cm.-- (Endocrine development, ISSN 1421-7082 ; Vol. 26)
Pediatric thyroidology
Includes bibliographical references and index.
ISBN 978-3-318-02720-4 (hard cover: alk. paper) -- ISBN 978-3-318-02721-1 (electronic version)
I. Szinnai, Gabor, editor. II. Title: Pediatric thyroidology. III. Series: Endocrine development ; v. 26. 1421-7082
[DNLM: 1. Thyroid Diseases. 2. Thyroid Gland-physiology. 3. Adolescent. 4. Child. 5. Infant. W1 EN3635 v.26 2014/WK 200]
RJ418
618.92'4--dc23
2014025445
This volume replaces Pediatric and Adolescent Endocrinology 1985, Vol. 14, ‘Pediatric Thyroidology’ (out of print).
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 2014 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 9706) by Kraft Druck GmbH, Ettlingen
ISSN 1421-7082
e-ISSN 1662-2979
ISBN 978-3-318-02720-4
e-ISBN 978-3-318-02721-1
Contents
Preface
Szinnai, G. (Basel)
Thyroid Hormone Physiology
Evolution, Child Development and the Thyroid: A Phylogenetic and Ontogenetic Introduction to Normal Thyroid Function
Krude, H. (Berlin)
Human Fetal Thyroid Function
Polak, M. (Paris)
The Role of Thyroid Hormones for Brain Development and Cognitive Function
Rovet, J.F. (Toronto, Ont.)
Congenital Hypothyroidism
Neonatal Screening for Congenital Hypothyroidism
Torresani, T. (Zurich)
Diagnosis, Treatment and Outcome of Congenital Hypothyroidism
Van Vliet, G.; Deladoëy, J. (Montreal, Que.)
Clinical Genetics of Congenital Hypothyroidism
Szinnai, G. (Basel)
Central Hypothyroidism in Children
García, M.; Fernández, A.; Moreno, J.C. (Madrid)
Impaired Sensitivity to Thyroid Hormones
Thyroid Hormone Cell Membrane Transport Defect
Ramos, H.E. (Salvador)
Resistance to Thyroid Hormone
Onigata, K. (Izumo); Szinnai, G. (Basel)
Thyroid and Environment
Iodine Deficiency in Children
Pearce, E.N. (Boston, Mass.)
Autoimmune Thyroid Disease
Thyroid Autoimmunity
Wiersinga, W.M. (Amsterdam)
Clinical Aspects of Hashimoto's Thyroiditis
Radetti, G. (Bolzano)
Graves’ Disease in Children
Léger, J. (Paris)
Thyroid Cancer
Thyroid Nodules and Differentiated Thyroid Cancer
Bauer, A.J. (Philadelphia, Pa.)
Medullary Thyroid Carcinoma in Children
Viola, D.; Romei, C.; Elisei, R. (Pisa)
Clinical Case Seminar
Clinical Case Seminar in Pediatric Thyroid Disease
Szinnai, G. (Basel); Léger, J. (Paris); Bauer, A.J. (Philadelphia, Pa.); Pearce, E.N. (Boston, Mass.); Ramos, H.E. (Salvador); Canalli, M.H. (Florianópolis); Onigata, K. (Izumo); Elisei, R. (Pisa); Radetti, G. (Bolzano); Polak, M. (Paris); Van Vliet, G.; Deladoëy, J. (Montreal, Que.)
Author Index
Subject Index
Preface
An early Karger publication on thyroid disease in children, Pediatric Thyroidology , edited by F. Delange, D.A. Fisher and P. Malvaux, appeared in 1985. It represented an extensive summary of the body of knowledge of all the thyroid diseases encountered by paediatricians and paediatric endocrinologists. Almost 30 years later, it is still a source of fascinating data with detailed clinical and scintigraphic descriptions of thyroid physiology and thyroid diseases.
This up-to-date volume resumes this tradition and summarizes the latest knowledge on all clinically relevant aspects of thyroid diseases - from the neonate to the adolescent. There are 15 clinical chapters, providing reviews of distinguished experts in the field. The chapters cover topics ranging from the developmental role of thyroid hormones, fetal thyroidology, congenital hypothyroidism, central hypothyroidism, inherited defects of thyroid hormone cell membrane transport and thyroid hormone action to iodine deficiency, autoimmune thyroid disease and thyroid tumours. All of the chapters are written to provide detailed clinical and molecular knowledge, and to review the current guidelines in paediatric thyroidology.
To extend the classical textbook format, the final chapter ‘Clinical case seminar in pediatric thyroid disease’ comprises a collection of representative case histories selected by each chapter author. This ‘crystalline’ form of the preceding 15 chapters aims at providing concise key learning points and references to specific problems encountered in clinical practice.
I am grateful to Prof. Primus Mullis, the editor of the Endocrine Development series, and Karger Publishers, for inviting me to edit this book. I wish to thank all of the authors and colleagues who participated in this book project with great enthusiasm despite short deadlines to provide an up-to-date volume and illustrated case histories. The chapters reflect their tremendous experience and commitment to children with thyroid diseases. Together with all of the coauthors, I hope the book will be useful for the reader and their patients.
Gabor Szinnai , Basel
Thyroid Hormone Physiology
Szinnai G (ed): Paediatric Thyroidology. Endocr Dev. Basel, Karger, 2014, vol 26, pp 1-16 (DOI: 10.1159/000363151)
______________________
Evolution, Child Development and the Thyroid: A Phylogenetic and Ontogenetic Introduction to Normal Thyroid Function
Heiko Krude
Institute for Experimental Paediatric Endocrinology, Charité, University Medicine Berlin, Berlin, Germany
______________________
Abstract
Congenital thyroid diseases can be explained in the context of the individual ontogenetic development; however, they can also be mirrored in the perspective of the phylogenetic evolution of the thyroid hormone system. The unique feature of the system, e.g. the generation of iodinated tyrosine derivatives by specialized enzymes that are frequently disrupted by mutations in congenital hypothyroidism, occurred very early in plant evolution and can still be demonstrated in algae today. All other components like the thyroid hormone receptors (TRs), the transporter molecules, the regulation by thyroid-stimulating hormone and thyrotropin-releasing hormone - and their respective receptors -as well as the structures that produce thyroid hormone with the human thyroid as the most recent development evolved in the animal kingdom. Already in the earliest animal species like Ciona intestinalis , specialized cells in the so-called endostyle not only iodinate tyrosine residues, but also secrete thyroid hormone itself, which activates TRs in target cells. During the following process of growing complexity of the thyroid system in higher species, pre-existing molecules and functions accumulated new variations, which enabled their assembly in new functional frames of the system and its central regulation. A deeper view into the range of evolutional variabilities and also flexibilities within the thyroid axis will most likely increase our understanding of the molecular defects and their potential treatment in the current human thyroid system.
© 2014 S. Karger AG, Basel
In this first chapter an attempt will be undertaken to introduce normal thyroid physiology with an emphasis on thyroid evolution. The various diseases of the thyroid, especially the different variants of congenital hypothyroidism, which are linked to the ontogenetic development of the thyroid will be mirrored in the origin and evolution of the thyroid system itself. The paper follows the idea that understanding of thyroid evolution might be a good