Thyroid Diseases in Childhood Recent Advances from Basic Science to
This book covers the entire spectrum of thyroid diseases in childhood, focusing on the recent advances that have been achieved, from progress in basic science research through to novel or improved approaches to diagnosis and treatment. Introductory chapte
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Thyroid Diseases in Childhood
Gianni Bona • Filippo De Luca Alice Monzani Editors
Thyroid Diseases in Childhood Recent Advances from Basic Science to Clinical Practice
Editors Gianni Bona
Novara Italy Filippo De Luca
Messina Italy
Alice Monzani Division of Pediatrics Piedemonte Hospital Novara Italy
ISBN 978-3-319-19212-3 ISBN 978-3-319-19213-0 DOI 10.1007/978-3-319-19213-0
(eBook)
Library of Congress Control Number: 2015945512 Springer Cham Heidelberg New York Dordrecht London © Springer International Publishing Switzerland 2015 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. Printed on acid-free paper Springer International Publishing AG Switzerland is part of Springer Science+Business Media (www. springer.com)
Contents
1
Thyroid Embryogenesis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 Mario De Felice and Roberto Di Lauro
2
Thyroid Hormones in Fetal Development. . . . . . . . . . . . . . . . . . . . . . . . 15 Sergio Bernasconi, C. Sartori, S. Merli, P. Lazzeroni, S. Cesari, and M.E. Street
3
Etiology of Congenital Hypothyroidism . . . . . . . . . . . . . . . . . . . . . . . . . 27 Gianni Bona, Simonetta Bellone, Flavia Prodam, and Alice Monzani
4
Neonatal Screening for Congenital Hypothyroidism: What It Has Taught us About Thyroid and Brain Development . . . . . 33 Johnny Deladoëy, Guy Van Vliet, and Yves Giguère
5
Laboratory Aspects in Neonatal Screening of Congenital Hypothyroidism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 43 Carlo Corbetta and Luisella Alberti
6
Epidemiology of Congenital Hypothyroidism . . . . . . . . . . . . . . . . . . . . 53 Antonella Olivieri
7
Congenital Hypothyroidism due to PAX8 Mutations . . . . . . . . . . . . . . 65 Satoshi Narumi and Tomonobu Hasegawa
8
Transient Neonatal Hypothyroidism . . . . . . . . . . . . . . . . . . . . . . . . . . . . 75 Silvana Caiulo, Maria Cristina Vigone, and Giovanna Weber
9
Central Hypothyro
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