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Practical clinial endocrinology

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  • Preface

  • Contents

  • Contributors

  • About the Editor

  • Abbreviations

  • I: Diseases of the Pituitary and Hypothalamus

    • 1: Prolactinoma

      • Case 1 Prolactinoma in Women

      • Case 2 Prolactinoma in Men

      • Case Continued

      • Suggested Reading

    • 2: Acromegaly

      • Case Presentation

      • Suggested Reading

    • 3: Cushing’s Disease

      • Case Presentation

      • Case Continued

      • Suggested Reading

    • 4: Non-functioning Pituitary Adenoma

      • Case Presentation

      • Case Presentation Continued

      • Case Presentation Continued

      • Case Presentation Continued

      • Case Presentation Conclusion

      • Suggested Reading

    • 5: Craniopharyngioma

      • Case Presentation

      • Case Continued

      • Suggested Reading

    • 6: Hypopituitarism

      • Case Report

      • Case Presentation Continued

      • Back to Our Patient

      • Back to Our Patient

      • Suggested Reading

    • 7: Kallmann Syndrome (Hypogonadotropic Hypogonadism)

      • Case Presentation

      • Suggested Reading

    • 8: Hypophysitis

      • Suggested Reading

    • 9: Diabetes Insipidus

      • Case Presentation

      • Suggested Reading

    • 10: Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH, SIAD) and the Clinical Management of Hyponatremia

      • Case Report

      • Case Presentation Continued

      • Box 10.1 The Most Important Causes of SIAD (based on Robinson and Verbalis [9])

      • Suggested Reading

  • II: Diseases of the Thyroid

    • 11: Hypothyroidism and Hashimoto’s Thyroiditis

      • Case Presentation

      • Case Presentation Summary

      • Suggested Reading

    • 12: Graves’ Disease and Hyperthyroidism

      • Case Presentation

      • Case Presentation Continued

      • Box 12.1 Indications for Ablative Treatment in Graves’ Disease

      • Suggested Reading

    • 13: Thyroid Storm

      • Case Presentation

      • Case Continued

      • Suggested Reading

    • 14: Endocrine Orbitopathy

      • Case Presentation

      • Suggested Reading

    • 15: Thyroid Nodule and Multinodular Goiter

      • Suggested Reading

    • 16: Subacute (de Quervain’s) Thyroiditis

      • Case Report

      • Follow-Up of the Case Presentation

      • Suggested Reading

    • 17: Amiodarone-Induced Thyroiditis

      • Case Presentation

      • Suggested Reading

    • 18: Differentiated Thyroid Cancer

      • Case Presentation

      • Suggested Reading

    • 19: Medullary Thyroid Cancer

      • Case Presentation

      • Case Presentation Continued

      • Case Presentation Continued

      • Case Presentation Continued

      • Box 19.1 Endocrine Causes of Chronic Diarrhea

      • Suggested Reading

    • 20: Thyroid Hormone Resistance

      • Suggested Reading

    • 21: Hyper- and Hypothyroidism in Pregnancy, Postpartum Thyroiditis

      • 21.1 Hyperthyroidism in Pregnancy

      • 21.2 Hypothyroidism in Pregnancy

      • 21.3 Postpartum Thyroiditis

      • Case Presentation 1

      • Case Presentation 2

      • Case Presentation 3

      • Suggested Reading

  • III: Diseases of the Parathyroid and Metabolic Bone Diseases

    • 22: Primary Hyperparathyroidism

      • Case Presentation

      • Suggested Reading

    • 23: Hypoparathyroidism

      • Case Presentation

      • Suggested Reading

    • 24: Osteoporosis

      • Case Presentation

      • Box 24.1 Common Diseases Associated with Osteoporosis (Secondary Osteoporosis) (the most importants are in italics)

      • Box 24.2 Treatment Options Against Osteoporosis

      • Suggested Reading

    • 25: Osteomalacia

      • Case Presentation

      • Suggested Reading

  • IV: Diseases of the Adrenal

    • 26: Adrenal Incidentaloma

      • Case Presentation

      • Suggested Reading

    • 27: Adrenal Cushing’s Syndrome

      • Case Presentation

      • Suggested Reading

    • 28: Primary Aldosteronism

      • Case Presentation

      • Suggested Reading

    • 29: Secondary Aldosteronism

      • Case Presentation

      • Suggested Reading

    • 30: Adrenocortical Cancer

      • Case Presentation

      • Suggested Reading

    • 31: Addison’s Disease and Autoimmune Polyendocrine Syndrome Type 2

      • Case Presentation

      • Suggested Reading

    • 32: Salt Wasting 21-Hydroxylase Deficiency

      • Case Presentation

      • Suggested Reading

    • 33: Simple Virilizing 21-Hydroxylase Deficiency

      • Case Presentation

      • Suggested Reading

    • 34: Late-Onset 21-Hydroxylase Deficiency

      • Case Presentation

      • Suggested Reading

    • 35: 17α-Hydroxylase/17, 20-Lyase Deficiency

      • Case Presentation

      • Suggested Reading

    • 36: Glucocorticoid Resistance

      • Case Presentation

      • Further Reading

    • 37: Pheochromocytoma

      • Case Report

      • Case Report (Continued)

      • Case Report (Continued)

      • Case Report (Continued)

      • Case Report (Continued)

      • Case Report (Continued)

      • Box 37.1 Pathological Conditions Mimicking PPGL – Differential Diagnosis

      • Suggested Reading

    • 38: Malignant Paraganglioma

      • Case Presentation

      • Follow-Up of the Case

      • Suggested Reading

  • V: Diseases of the Gonads

    • 39: Polycystic Ovary Syndrome

      • Box 39.1 Differential Diagnosis of Androgen Excess (AE) in Women

      • Follow-up of the Patient’s Case

      • Case Presentation

      • Suggested Reading

    • 40: Turner Syndrome

      • Case Presentation

      • Suggested Reading

    • 41: Primary Ovarian Insufficiency

      • Box 41.1 Usual Doses of Hormone Therapy in Primary Ovarian Insufficiency

      • Case Presentation

      • Suggested Reading

    • 42: Klinefelter Syndrome

      • Box 42.1 Other Major Causes of Primary Hypogonadism in Males

      • Case Presentation

      • Back to Our Patient

      • Suggested Reading

    • 43: Complete Androgen Insensitivity Syndrome

      • Case Presentation

      • Suggested Reading

  • VI: Neuroendocrine Tumors and Paraneoplastic Endocrine Syndromes

    • 44: Carcinoid Syndrome Caused by a Small Intestinal Neuroendocrine Tumor

      • Case Presentation

      • Suggested Reading

    • 45: Ectopic ACTH Syndrome Caused by a Bronchial Neuroendocrine Tumor

      • Case Presentation Continued

      • Case Presentation

      • Case Presentation Continued

      • Case Presentation Continued

      • Case Presentation Continued

      • Suggested Reading

    • 46: Insulinoma

      • Case Presentation

      • Suggested Reading

    • 47: Factitious Hypoglycemia

      • Case Presentation

      • Case Presentation Continued

      • Suggested Reading

    • 48: Gastrinoma

      • Case Presentation

      • Case Presentation Continued

      • Case Presentation Continued

      • Case Presentation Continued

      • Case Presentation Continued

      • Case Presentation Concluded

      • Suggested Reading

    • 49: Humoral Hypercalcemia of Malignancy

      • Case Report

      • Case Report Continued

      • Case Report Follow-Up

      • Case Report Continued

      • Suggested Reading

  • VII: Multiple Endocrine Neoplasia Syndromes

    • 50: Multiple Endocrine Neoplasia Type 1

      • Case Presentation

      • Suggested Reading

    • 51: Multiple Endocrine Neoplasia Type 2

      • Case Presentation

      • Case Presentation Continued…

      • Suggested Reading

    • 52: Von Hippel–Lindau Syndrome

      • Case Presentation

      • Case Continued

      • Suggested Reading

  • Appendix

  • Index

Nội dung

Matthew P Lungren Michael R.B Evans Editors Practical ClinicalMedicine Clinical Endocrinology Covertemplate Subtitle for Peter Igaz Clinical Editor Medicine Covers T3_HB Second Edition 1123 Practical Clinical Endocrinology Peter Igaz Editor Practical Clinical Endocrinology Editor Peter Igaz 2nd Department of Internal Medicine, Faculty of Medicine Semmelweis University Budapest, Hungary ENETS Center of Excellence Semmelweis University Budapest, Hungary Department of Endocrinology, Department of Internal Medicine and Oncology, Faculty of Medicine Semmelweis University Budapest, Hungary MTA-SE Molecular Medicine Research Group, Hungarian Academy of Sciences and Semmelweis University Budapest, Hungary ISBN 978-3-030-62010-3    ISBN 978-3-030-62011-0 (eBook) https://doi.org/10.1007/978-3-030-62011-0 © Springer Nature Switzerland AG 2021 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, expressed or implied, with respect to the material contained herein or for any errors or omissions that may have been made The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations This Springer imprint is published by the registered company Springer Nature Switzerland AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland V Preface Endocrinology is a fascinating field of medicine It is very versatile and stimulating Practicing endocrinology promotes our abilities in differential diagnosis and complex thinking This book of endocrinology aims to give the reader an overall and deep presentation of contemporary endocrine practice In order to highlight its practical approach, diseases are presented via endocrine cases where the questions and pitfalls in diagnosis and treatment are discussed similar to real life experiences Moreover, an unconventional question-­answer format is used where the most important features of the diseases are underlined as questions As the book focuses on the practice, that is, symptoms, diagnosis, differential diagnosis, and treatment issues related to a wide variety of endocrine diseases, only minimal theory of endocrinology is included wherever it aids comprehension This book is therefore designed for those who have some basic knowledge in endocrinology Practical Clinical Endocrinology is dedicated primarily to adult endocrinology; however, some important endocrine diseases from childhood that are certainly continued to be treated in adults, for example, congenital adrenal hyperplasia, are also discussed The book is comprised of seven parts along the most important endocrine organs – Part 1: Diseases of the Pituitary and the Hypothalamus; Part 2: Diseases of the Thyroid; Part 3: Diseases of the Parathyroid and Metabolic Bone Diseases; Part 4: Diseases of the Adrenal; Part 5: Diseases of the Gonads; Part 6: Neuroendocrine Tumors and Paraneoplastic Endocrine Syndromes; and Part 7: Multiple Endocrine Neoplasia Syndromes There are 52 chapters in the book that aim to cover the most common diseases in endocrinology Apart from the most important and most common endocrine diseases, many rare but interesting diseases (e.g., hormone resistance syndromes) are also discussed In addition to chronic diseases that constitute the major part of endocrinology, important emergency conditions and complications such as thyroid storm, adrenal crisis, and the management of hormone-related electrolyte disturbances are also discussed The book contains 117 figures and 107 tables to facilitate understanding Who can find this book useful? The book is meant for a broad audience, but first of all to medical residents in training and preparing for a board exam in internal medicine and/or endocrinology Moreover, this book can also be useful for established specialists in endocrinology or internal medicine to deepen or refresh their knowledge The book can also be interesting to university students, most notably the chapters on common diseases from which exam questions are frequently prepared Some questions from the book can even be asked and therefore be interesting both for students and examiners VI Preface I really hope that this book represents a novel way of learning and refreshing our knowledge in endocrinology and the reader will find it interesting Last but not least, I would like to thank all the authors for their devotion to make this book, which I hope was worth the efforts Peter Igaz Budapest, Hungary 2020 VII Contents I Diseases of the Pituitary and Hypothalamus Prolactinoma �����������������������������������������������������������������������������������������������������������������  3 Beatrix Sármán Acromegaly������������������������������������������������������������������������������������������������������������������� 15 Judit Dénes and Erika Hubina Cushing’s Disease ����������������������������������������������������������������������������������������������������� 25 Sabina Zacharieva and Ivayla Uzunova Non-functioning Pituitary Adenoma��������������������������������������������������������� 35 Sabina Zacharieva and Atanaska Elenkova Craniopharyngioma ����������������������������������������������������������������������������������������������� 49 Réka Kollár and Nikolette Szücs Hypopituitarism��������������������������������������������������������������������������������������������������������� 55 Nikolette Szücs  allmann Syndrome (Hypogonadotropic K Hypogonadism) ��������������������������������������������������������������������������������������������������������� 65 Nikolette Szücs Hypophysitis����������������������������������������������������������������������������������������������������������������� 71 Sandra Pekic, Dragana Miljic, Marko Stojanovic, Frédérique Albarel, Jean-Francois Bonneville, and Vera Popovic Diabetes Insipidus ��������������������������������������������������������������������������������������������������� 89 Eleonora Seelig and Jonas Rutishauser 10  yndrome of Inappropriate Antidiuretic S Hormone Secretion (SIADH, SIAD) and the Clinical Management of Hyponatremia��������������������������������������������������� 99 Ivica Lazúrová VIII Contents II Diseases of the Thyroid 11 Hypothyroidism and Hashimoto’s Thyroiditis�������������������������������������115 Peter Reismann 12 Graves’ Disease and Hyperthyroidism �����������������������������������������������������127 Peter Reismann 13 Thyroid Storm �������������������������������������������������������������������������������������������������������������139 Gabor Laszlo Kovacs 14 Endocrine Orbitopathy�����������������������������������������������������������������������������������������149 Endre V Nagy 15 Thyroid Nodule and Multinodular Goiter�����������������������������������������������157 Tamas Solymosi 16 Subacute (de Quervain’s) Thyroiditis���������������������������������������������������������171 Peter Reismann 17 Amiodarone-Induced Thyroiditis �����������������������������������������������������������������179 Endre V Nagy and Miklós Bodor 18 Differentiated Thyroid Cancer�������������������������������������������������������������������������183 Emese Mezősi 19 Medullary Thyroid Cancer ���������������������������������������������������������������������������������195 Géza Nagy 20 Thyroid Hormone Resistance���������������������������������������������������������������������������205 Luca Persani and Irene Campi 21  yper- and Hypothyroidism in Pregnancy, H Postpartum Thyroiditis�����������������������������������������������������������������������������������������217 Miklós Bodor III Diseases of the Parathyroid and Metabolic Bone Diseases 22 Primary Hyperparathyroidism �����������������������������������������������������������������������229 Judit Tőke Contents 23 IX Hypoparathyroidism ���������������������������������������������������������������������������������������������239 Szilvia Mészáros 24 Osteoporosis�����������������������������������������������������������������������������������������������������������������249 Csaba Horvath 25 Osteomalacia ���������������������������������������������������������������������������������������������������������������261 Csaba Horvath IV Diseases of the Adrenal 26 Adrenal Incidentaloma�����������������������������������������������������������������������������������������275 Prerna Dogra and Irina Bancos 27 Adrenal Cushing’s Syndrome���������������������������������������������������������������������������289 Peter Igaz 28 Primary Aldosteronism�����������������������������������������������������������������������������������������297 Teresa Maria Seccia 29 Secondary Aldosteronism ���������������������������������������������������������������������������������309 Károly Pócsai, Csaba Sumánszki, and Judit Tőke 30 Adrenocortical Cancer�������������������������������������������������������������������������������������������319 Massimo Terzolo and Soraya Puglisi 31  ddison’s Disease and Autoimmune Polyendocrine A Syndrome Type 2�������������������������������������������������������������������������������������������������������327 Abel Decmann and Peter Igaz 32 Salt Wasting 21-Hydroxylase Deficiency�������������������������������������������������337 Dóra Tưrưk and Judit Tőke 33 Simple Virilizing 21-Hydroxylase Deficiency���������������������������������������345 Dóra Tưrưk and Judit Tőke 34 Late-Onset 21-Hydroxylase Deficiency ���������������������������������������������������353 Peter Igaz 35 17α-Hydroxylase/17, 20-­Lyase Deficiency���������������������������������������������359 Peter Igaz X Contents 36 Glucocorticoid Resistance ���������������������������������������������������������������������������������367 Nicolas C Nicolaides and Evangelia Charmandari 37 Pheochromocytoma �����������������������������������������������������������������������������������������������373 Letizia Canu, Giuseppina De Filpo, and Massimo Mannelli 38 Malignant Paraganglioma ���������������������������������������������������������������������������������383 Andrea Uhlyarik and Peter Igaz V 39 Diseases of the Gonads Polycystic Ovary Syndrome�������������������������������������������������������������������������������391 Carmen E Georgescu 40 Turner Syndrome�������������������������������������������������������������������������������������������������������405 Judit Major and Peter Igaz 41 Primary Ovarian Insufficiency�������������������������������������������������������������������������413 Attila Molvarec 42 Klinefelter Syndrome���������������������������������������������������������������������������������������������419 Nikolette Szücs 43 Complete Androgen Insensitivity Syndrome���������������������������������������425 Monika Grymowicz, Ewa Rudnicka, Katarzyna Smolarczyk, Roman Smolarczyk, Anna Szeliga, Agnieszka Podfigurna, and Błażej Męczekalski VI Neuroendocrine Tumors and Paraneoplastic Endocrine Syndromes 44  arcinoid Syndrome Caused by a Small Intestinal C Neuroendocrine Tumor����������������������������������������������������������������������������������������435 Peter Igaz 45  ctopic ACTH Syndrome Caused by a Bronchial E Neuroendocrine Tumor����������������������������������������������������������������������������������������447 Géza Nagy 46 Insulinoma���������������������������������������������������������������������������������������������������������������������459 Gerlies Treiber and Peter Igaz 517 Von Hippel–Lindau Syndrome ??Cerebellar hemangioblastoma (Lindau tumor) should wake the suspicion for von Hippel–Lindau syndrome What should be done next? vvHemangioblastomas are uncommon tumors of the central nervous system, and these are important manifestations of the VHL-syndrome About 40% of VHL-syndrome-associated hemangioblastomas occur in the cerebellum, whereas about 50% in the spinal cord vvA family tree should be taken to search for a potential hereditary case ( Fig.  52.1 represents the patient’s family tree), but the syndrome can occur sporadically as well Genetic testing is mandatory Careful history taking is important Ophthalmological examination should be done for the potential retinal angiomas         Fig 52.1  Family tree of the patient Note that affected patients are found in every generation characteristic for an autosomal dominantly inherited trait ?? Genetic testing showed a heterozygous Glu94 STOP mutation in the first exon of the VHLgene that is a known pathogenic mutation of the VHL-syndrome What is the chance for passing this mutation to the offspring? vvBeing a heterozygous mutation, there is a 50% chance of passing it to the next generation As VHL is inherited as an autosomal dominant trait, one mutant allele is enough for disease manifestation, and therefore, half of the offspring can be expected to manifest the disease ?? What kind of imaging should be performed? vv Abdominal imaging preferably by MRI (or computed tomography (CT)) should be done to investigate the kidneys, pancreas, and adrenals The spine should be examined for potential spinal cord tumors Circles: women, squares: men, affected patients are black, the index patient is indicated by an arrow 52 518 P Igaz Case Continued Abdominal CT showed multiple cysts in the pancreas and the kidneys ( Figs.  52.2a and b), but the adrenals were normal In the left kidney, the suspicion for renal cancer was raised (solid tumor of 24 × 20 mm) A urologi  a cal consultation was requested, but due to the small size (

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