CONTEMPORARY ASPECTS OF ENDOCRINOLOGY Edited by Evanthia Diamanti-Kandarakis Contemporary Aspects of Endocrinology Edited by Evanthia Diamanti-Kandarakis Published by InTech Janeza Trdine 9, 51000 Rijeka, Croatia Copyright © 2011 InTech All chapters are Open Access distributed under the Creative Commons Attribution 3.0 license, which allows users to download, copy and build upon published articles even for commercial purposes, as long as the author and publisher are properly credited, which ensures maximum dissemination and a wider impact of our publications. After this work has been published by InTech, authors have the right to republish it, in whole or part, in any publication of which they are the author, and to make other personal use of the work. Any republication, referencing or personal use of the work must explicitly identify the original source. 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Used under license from Shutterstock.com First published November, 2011 Printed in Croatia A free online edition of this book is available at www.intechopen.com Additional hard copies can be obtained from orders@intechweb.org Contemporary Aspects of Endocrinology, Edited by Evanthia Diamanti-Kandarakis p. cm. 978-953-307-357-6 free online editions of InTech Books and Journals can be found at www.intechopen.com Contents Preface IX Part 1 Introduction to Endocrinology 1 Chapter 1 The Power of an Evolutionary Perspective in Studies of Endocrinology 3 Jing He, David M. Irwin and Ya-Ping Zhang Part 2 Pituitary Adenomas 23 Chapter 2 The Genetics of Pituitary Adenomas 25 Monica Fedele, Giovanna Maria Pierantoni and Alfredo Fusco Chapter 3 Acromegaly and Gigantism 51 Fulya Akin and Emrah Yerlikaya Chapter 4 Effects of Growth Hormone (GH) Overexpression in Signaling Cascades Involved in Promotion of Cell Proliferation and Survival 73 Lorena González, Johanna G. Miquet and Ana I. Sotelo Part 3 The Thyroid Gland 99 Chapter 5 Negative Regulation of the Thyrotropin Gene by Thyroid Hormone 101 Shigekazu Sasaki, Akio Matsushita and Hirotoshi Nakamura Chapter 6 Clinical Management of Thyroid Nodules in the Areas of Various Iodine Supply 139 Dorota Słowińska-Klencka, Bożena Popowicz, Stanisław Sporny and Mariusz Klencki VI Contents Chapter 7 Clinical Workup of Nodular and Mass Lesions of the Endocrine Organs 165 Xiaoqi Lin and Bing Zhu Chapter 8 Molecular Biology of Thyroid Cancer 189 Giuseppe Viglietto and Carmela De Marco Chapter 9 Diagnosis and Differential Diagnosis of Medullary Thyroid Cancer 235 Antongiulio Faggiano, Valeria Ramundo, Gaetano Lombardi and Annamaria Colao Chapter 10 Molecular Diagnostics in Treatment of Medullary Thyroid Carcinoma 251 Brigitte M. Pützer, Alf Spitschak and David Engelmann Chapter 11 Medullary Thyroid Carcinoma Associated with RET Mutations Located in Exon 8 271 Melpomeni Peppa and Sotirios A. Raptis Chapter 12 Status for Congenital Hypothyroidism at Advanced Ages 281 Sevil Ari Yuca Part 4 Adrenal Glands 289 Chapter 13 Adrenal Incidentaloma and Adrenocortical Carcinoma: A Clinical Guideline on Treating the Unexpected and a Plea for Specialized Care 291 S.H.A. Brouns, T.M.A. Kerkhofs, I.G.C. Hermsen and H.R. Haak Chapter 14 Adrenal Cortex Tumors and Hyperplasias 311 Duarte Pignatelli Chapter 15 Autoimmunity to Steroid-Producing Cells 355 Alberto Falorni and Stefania Marzotti Chapter 16 Excretion of Steroid Hormones in Rodents: An Overview on Species Differences for New Biomedical Animal Research Models 375 Juan Manuel Busso and Rubén Daniel Ruiz Part 5 Metabolic Bone Disease 397 Chapter 17 New Trends in Calcium and Phosphorus Metabolism Disorders – Hypoparathyroidism 399 Gonzalo Díaz-Soto and Manuel Puig-Domingo Contents VII Chapter 18 Monogenic Phosphate Balance Disorders 415 Helge Raeder, Silje Rafaelsen and Robert Bjerknes Chapter 19 Pseudohypoparathyroidism in Children 433 Benjamin U. Nwosu Chapter 20 Retinoids and Bone 443 H. Herschel Conaway and Ulf H. Lerner Chapter 21 Environmental Endocrinology: Endocrine Disruptors and Endocrinopathies 455 Eleni Palioura, Eleni Kandaraki and Evanthia Diamanti-Kandarakis Preface Comprehending endocrine disorders requires a combination of basic knowledge on molecular biology and genetics as well as a good grasp of the clinical aspects. Given the recent advances in these fields, an overview of the latest trends and developments affecting endocrinology is provided. As one of the most up to date publications on this specialist field, this book is the result of a collaboration between a number of leading researchers and practitioners in the field who are recognized for their work over the years in the field of endocrinology. The book provides and indepth analysis across a range of topics focused on hormonal and metabolic disorders. The book aims to provide a basic as well as advanced recent trends in endocrine disorders in addition to an analytical focus on those topics less well-studied. Readers will find a large spectrum of endocrinopathise from thyroid carcinogenesis and pituitary adenomas to adrenal tumors and metabolic bone disease. Emphasis has also been focused on more specific issues not yet fully elucidated (e.g. the molecular pathways involved in thyrotropin beta gene regulation or monogenic phosphate balance disorders). We hope that the scope of this book is not only to answer questions but mainly to stimulate new questions.In sharing the knowledge, of the eminent scientists and clinicians in this book with a broad spectrum of readers,it will spark new interest in the expanding spectrum of endocrine disorders. The book is organized into the following sections: I. INTRODUCTION TO ENDOCRINOLOGY including the chapter « The power of an evolutionary perspective in studies of endocrinology» by Dr. Zhang Yaping et al.; a review focused on recent advances in the understanding of the evolution of hormone signalling pathways. II. PITUITARY ADENOMAS including the following chapters: «The Genetics of Pituitary Adenomas» by Dr. Fedele Monica et al.; a review on pituitary adenomas covering a wide spectrum from pituitary tumorigenesis to sporadic and familiar pituitary adenomas. X Preface «Acromegaly and Gigantism» by Dr. Akin Fulya et al.; authors attempt to provide data concerning the history, epidemiology, etiology, pathophysiology, clinical features, diagnosis and treatment of acromegaly. «Effects of Growth hormone (GH) over-expression on signaling cascades involved in promotion of cell proliferation and survival» by Dr. González Lorena et al.; authors analyze the effects of long term exposure to growth hormone (GH) at the molecular level in the liver. III. THE THYROID GLAND including the following chapters: «Negative regulation of the thyrotropin beta gene by T3» by Dr. Sasaki Shigekazu et al.; an up-to-date review focused on the molecular mechanisms of negative regulation of the TSH beta gene by T3. «Clinical management of thyroid nodules in the areas of various iodine supply» by Prof. Słowińska-Klencka Dorota et al.; a review is focused on the clinical management of thyroid nodules in areas of different iodine status (high, sufficient or inadequate iodine supply). «Clinical Workup of Nodular and Mass Lesions of the Endocrine Organs» by Dr. Lin Xiaoqi et al.; a review focused on the application of FNA biopsy for thyroid and parathyroid lessions. «Molecular biology of thyroid cancer» by Prof. Viglietto Giuseppe et al.; a revision on thyroid tumorigenesis covering a wide literature spectrum from epidemiology and risk factors of thyroid cancer to the mechanisms and molecular pathways that underlie onset and progression of these neoplasms. «Diagnosis and differential diagnosis of medullary thyroid cancer» by Dr. Faggiano Antongiulio et al.; a review focused on the pathogenesis, diagnosis and therapeutic approach of medullary thyroid cancer. «Molecular Diagnostics in Treatment of Medullary Thyroid Carcinoma» by Prof. Pützer Brigitte et al.; a review focused on new perspectives in the molecular diagnostic approach of patients with medullary thyroid cancer. «Medullary thyroid carcinoma associated with RET mutations located in exon» by Dr. Peppa Melpomeni et al.; a chapter focused on the genetic analysis of the RET protooncogene -apart from the known somatic mutations in exons 10, 11, 13-16, authors analyze another “ non classical” exon mutation in exon 8. «Status for congenital hypothyroidism at advanced ages» by Dr. Ari Yuca Sevil; a review focused on the multi-systemic abnormalities provoked by congenital hypothyroidism later in life. [...]... vertebrate genomes resulted in the identification of a great number of potential receptors The orthology of the different receptors was established using analysis of synteny of the genes In combination with phylogenetic reconstruction, the monophyly of each receptor type was established, and no more than one copy of each type of receptor was identified in any of the studied species GHSR and MLNR are more... function Thus, a stepwise process of elaboration through mutation and optimization ensues, adapting genes (and their encoded proteins) into the physiology of an organism Here we review several recent advances in our understanding of the evolution of hormone signalling pathways that illustrate the power of an evolutionary perspective Among our 4 Contemporary Aspects of Endocrinology examples are the motilin... preproghrelin MLN, prepromotilin 14 Contemporary Aspects of Endocrinology 4.1.3 Evolution of ghrelin and motilin receptors Only a small number of Ghrelin and motilin receptor genes are known and most of these are from mammals, with ortholog from only two species of fish having previously being characterized (Palyha et al 2000; Chan and Cheng 2004) Our bioinformatic searches of diverse vertebrate genomes... Diamanti-Kandarakis University of Athens Medical School, Sotiria Hospital, Athens, Greece XI Part 1 Introduction to Endocrinology 1 The Power of an Evolutionary Perspective in Studies of Endocrinology 1State Jing He1, David M Irwin1,2 and Ya-Ping Zhang1,3 Key Laboratory of Genetic Resource and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences 2Department of Laboratory Medicine and Pathobiology... become recruited into a new function Given the evolutionary dynamics of the genome and the plasticity of biomolecule networks, an evolutionary perspective is necessary to understand many aspects of the molecular basis of endocrinology An integrated evolutionary comparative strategy helps enhance our understanding of the assemblage of the complex endocrine systems, provide important clues in interaction... arises, a stepwise process of elaboration and optimization ensues, which gradually integrates and orders mutations into a coherent pattern Given the evolutionary dynamics of the genome and the plasticity of biomolecular networks, an evolutionary perspective is necessary to understand many aspects of the molecular basis of endocrinology 5 Conclusion Biological evolution is the process of generating biodiversity... understanding of how organisms adapt to changing environments 2 The molecular basis of endocrine systems Endocrinology is the branch of biology that focuses on regulatory systems involving a group of specialized chemical substances called hormones that travel though blood New developments in endocrinology have been dominated by progress in molecular genetics Although these investigations often relate... pinnacle of gradually developed complexity, is a onesided and incorrect view (Markov et al 2008) In the light of evolution, an approach that considers each taxa equally, adopts a comparative strategy, integrates information from diverse organisms and various scientific approaches, helps enhance our understanding of The Power of an Evolutionary Perspective in Studies of Endocrinology 5 the assemblage of the... sizes of gene families rather than due to a growth of the number of unique gene types, hence multicellular organisms employ large sets of similar gene products while exhibiting extraordinary biodiversity The elements of endocrine systems often group into families (e.g., hormones and their specific receptors), whose members have diverged to various extents in regulation and function (Danks et al 2011; Hoffmann... increase gastrointestinal motility by activating neural pathways or via the direct stimulation of smooth muscles In human and dog it has been suggested that motilin has a physiological role in the regulation of a motor pattern 8 Contemporary Aspects of Endocrinology typical for the fasted state (Poitras 1993) It is of interest to note that motilin also has a weak GH-releasing effect (Samson et al 1984) GPR38, . CONTEMPORARY ASPECTS OF ENDOCRINOLOGY Edited by Evanthia Diamanti-Kandarakis Contemporary Aspects of Endocrinology Edited by Evanthia. advances in our understanding of the evolution of hormone signalling pathways that illustrate the power of an evolutionary perspective. Among our Contemporary Aspects of Endocrinology 4 examples. evolutionary dynamics of the genome and the plasticity of biomolecule networks, an evolutionary perspective is necessary to understand many aspects of the molecular basis of endocrinology. An integrated