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Brook's Clinical Pediatric Endocrinology


Brook's Clinical Pediatric Endocrinology


7. Aufl.

von: Mehul T. Dattani, Charles G. D. Brook

251,99 €

Verlag: Wiley-Blackwell
Format: PDF
Veröffentl.: 27.08.2019
ISBN/EAN: 9781119152699
Sprache: englisch
Anzahl Seiten: 816

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Beschreibungen

<p>The seventh edition of <i>Brook's Clinical Pediatric Endocrinology</i> has been compiled by an experienced editorial team and internationally renowned contributors; it presents basic science and clinical management of endocrine disorders for all involved in the care of children and adolescents. It provides treatments for a variety of hormonal diseases, including diabetes and hypoglycaemia, growth problems, thyroid disease and disorders of puberty, sexual differentiation, calcium metabolism, steroid metabolism and hypopituitarism.</p>
<p>List of Contributors xix</p> <p>Preface xxiii</p> <p>About the Companion Website xxv</p> <p><b>1 Genetics and Genomics 1<br /></b><i>Anu Bashamboo and Ken McElreavey</i></p> <p>Introduction 1</p> <p>Basic Concepts in Human Genetics and Genomics 1</p> <p>Classes of RNA Molecules and their Functions 4</p> <p>Gene Mutations and Inheritance 7</p> <p>Human Populations and Genetic Variation 12</p> <p>Epigenetics 14</p> <p>Advances in Genomic Analysis 15</p> <p>Establishing Variant Causality 19</p> <p>The Age of Precision Medicine 24</p> <p>Clinical Guidelines 24</p> <p>Acknowledgments 25</p> <p>Glossary of Terms 25</p> <p>Further Reading 29</p> <p><b>2 Measuring Hormones 31<br /></b><i>Gerhard Binder</i></p> <p>Introduction 31</p> <p>Hormone Assays 31</p> <p>Assay Validity 33</p> <p>Technical Pitfalls When Measuring Hormones 36</p> <p>Clinical Assay Validity 38</p> <p>Stimulation Tests, Suppression Tests and Profiles 42</p> <p>Optimal Clinical Use of Hormone Tests 44</p> <p>Acknowledgements 44</p> <p>References 44</p> <p><b>3 Fetal Endocrinology 47<br /></b><i>Harshini Katugampola, Evelien F. Gevers, and Mehul T. Dattani</i></p> <p>Introduction 48</p> <p>Transplacental Passage of Hormones 48</p> <p>Development of Fetal Endocrine Systems 50</p> <p>Neutralization of Hormone Activity in the Fetus 82</p> <p>Plasticity of Fetal Endocrine Systems 84</p> <p>Fetal Adaptations for Transition to Extrauterine Life 85</p> <p>Frontiers in Fetal and Neonatal Endocrinology 89</p> <p>References 90</p> <p><b>4 Disorders of Sex Development 105<br /></b><i>Martine Cools and Birgit Köhler</i></p> <p>Normal Sex Development 105</p> <p>Terminology 106</p> <p>Causes of DSD 107</p> <p>Impaired Gonadal Development 108</p> <p>Disturbances of Testicular Hormone Production or Action 113</p> <p>Virilization of an XX Individual 116</p> <p>Management of DSD 118</p> <p>Clinical Management 122</p> <p>Other Examples of XY DSD 126</p> <p>Future Perspectives 127</p> <p>References 127</p> <p>Weblinks 131</p> <p><b>5 Disorders of Hypothalamo‐Pituitary Axis 133<br /></b><i>Hoong‐Wei Gan, Kyriaki‐Sandy Alatzoglou, and Mehul T. Dattani</i></p> <p>Introduction 133</p> <p>The Hypothalamo‐Pituitary Neuroendocrine Axis 134</p> <p>Hypothalamo‐Pituitary Development 134</p> <p>Congenital Disorders of Hypothalamo‐Pituitary Development 144</p> <p>Acquired Disorders of Hypothalamo‐Pituitary Dysfunction 155</p> <p>Investigation of Hypopituitarism 172</p> <p>Management of Hypopituitarism 173</p> <p>Conclusion 174</p> <p>References 174</p> <p><b>6 Disorders of Growth 199<br /></b><i>P.G. Murray and P.E. Clayton</i></p> <p>Normal Growth 200</p> <p>Short Stature 205</p> <p>Acquired GH Deficiency 211</p> <p>Disorders of GH Action and GH Sensitivity (Primary IGF‐I Deficiency) 213</p> <p>Growth Disorders not Related to the GH‐IGF Axis 216</p> <p>Syndromes Associated with Short Stature 219</p> <p>Idiopathic Short Stature 225</p> <p>Skeletal Dysplasias 227</p> <p>Tall Stature 229</p> <p>References 233</p> <p><b>7 Puberty and Its Disorders 235<br /></b><i>Sasha R. Howard, Nicolas de Roux, Juliane Leger, Jean‐Claude Carel, and Leo Dunkel</i></p> <p>Normal Puberty 235</p> <p>Precocious Puberty 256</p> <p>Delayed Puberty 265</p> <p>Conclusions 283</p> <p>References 284</p> <p><b>8 The Thyroid Gland 289<br /></b><i>Catherine Peters and Nadia Schoenmakers</i></p> <p>Section 1: Development of the Thyroid Axis 289</p> <p>Section 2: Clinical Thyroid Disorders 301</p> <p>Section 3: Diagnostic Pitfalls 315</p> <p>References 320</p> <p>Weblinks 334</p> <p><b>9 The Adrenal Cortex and Its Disorders 335<br /></b><i>Claire R. Hughes, Elim Man, and John C. Achermann</i></p> <p>Introduction 335</p> <p>Development, Function and Regulation of the Adrenal Gland 336</p> <p>Adrenal Insufficiency (AI) 353</p> <p>Adrenal Excess 393</p> <p>Education, Support and Long‐Term Care 401</p> <p><b>10 The Parathyroid and Disorders of Calcium and Bone Metabolism 409<br /></b><i>Jeremy Allgrove and Moira Cheung</i></p> <p>Introduction 409</p> <p>Physiology of Calcium and Bone Metabolism 409</p> <p>Physiology of Bone Metabolism 421</p> <p>Interactions between Calciotropic Agents 425</p> <p>Fetal and Neonatal Calcium Metabolism 425</p> <p>Post‐Neonatal Calcium, Phosphate and Magnesium Metabolism and the Calcium Cascade 426</p> <p>Clinical Conditions 426</p> <p>Drugs Used in the Treatment of Disorders of Calcium and Bone Metabolism 467</p> <p>Summary 470</p> <p>References 472</p> <p>Weblinks 479</p> <p><b>11 Polyglandular Autoimmune Syndromes 481<br /></b><i>Catherine J. Owen, Mario Abinun, Simon H.S. Pearce, and Tim D. Cheetham</i></p> <p>Introduction 481</p> <p>Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1) 483</p> <p>Autoimmune Polyendocrinopathy Syndrome Type 2 and Associated Disorders 494</p> <p>Other Single Gene Disorders Associated with Immune Dysregulation and Autoimmune Endocrinopathies 499</p> <p>Conclusion 502</p> <p>References 502</p> <p><b>12 Endocrine Neoplasia 507<br /></b><i>Constantine A. Stratakis and Emmanouil Saloustros</i></p> <p>Thyroid Neoplasia: Nodules and Cancer 507</p> <p>Paragangliomas and Phaeochromocytomas 511</p> <p>Adrenocortical Cancers 521</p> <p>Tumours of the Ovary 524</p> <p>Tumours of the Testes 528</p> <p>References 530</p> <p><b>13 Endocrine Late Effects of Cancer Treatments 533<br /></b><i>Wassim Chemaitilly and Melissa M. Hudson</i></p> <p>Prevalence and Risk Factors for Endocrine Late Effects 538</p> <p>Diagnosis and Management of Common Endocrine Late Effects 546</p> <p>Summary 550</p> <p>References 550</p> <p>Weblinks 552</p> <p><b>14 Disorders of Water Balance 553<br /></b><i>Natascia Di Iorgi, Flavia Napoli, Giovanni Morana, and Mohamad Maghnie</i></p> <p>Regulation of Water Balance 554</p> <p>Diabetes Insipidus (DI) 558</p> <p>Central Diabetes Insipidus and Adipsia 572</p> <p>Primary Polydipsia 572</p> <p>Nephrogenic Diabetes Insipidus 573</p> <p>The Syndrome of Inappropriate Antidiuretic Hormone Secretion 573</p> <p>Management of Central Diabetes Insipidus 573</p> <p>Treatment of Nephrogenic Diabetes Insipidus 574</p> <p>Treatment of Inappropriate Antidiuretic Hormone Secretion 574</p> <p>Challenges 575</p> <p>Conclusions 575</p> <p>Clinical Guidelines 575</p> <p>References 576</p> <p><b>15 Diabetes Mellitus 583<br /></b><i>G.R. Ambler, F.J. Cameron, K. Joshi, and D.K. Wherrett</i></p> <p>Type 1 Diabetes 583</p> <p>Type 2 Diabetes 626</p> <p>Cystic Fibrosis‐Related Diabetes 637</p> <p>Monogenic Forms of Diabetes 639</p> <p>Rare Forms of Diabetes 647</p> <p>Living with Diabetes 648</p> <p>References 649</p> <p><b>16 Disorders Associated with Hypoglycaemia in Children 671<br /></b><i>Pratik Shah, Emma Footit, and Ritika Kapoor</i></p> <p>Introduction 671</p> <p>Physiology of Blood Glucose Control 672</p> <p>Role of Gut Hormones in Glucose Homeostasis 673</p> <p>Metabolic Adaptation to Birth 673</p> <p>Metabolic Adaptation to Feeding and Fasting 674</p> <p>The Regulation of Insulin Secretion and Role of K<sub>ATP</sub> Channels 675</p> <p>Definition of Hypoglycaemia 676</p> <p>Aetiology and Clinical Approach to Hypoglycaemia 678</p> <p>Investigations for Hypoglycaemia 680</p> <p>Emergency Management of Hypoglycaemia 682</p> <p>Causes of Hypoglycaemia 682</p> <p><b>17 Obesity 701<br /></b><i>Wieland Kiess</i></p> <p>Introduction 701</p> <p>Definitions, Differential Diagnosis, Assessments and Measurements 701</p> <p>Aetiology of Obesity 703</p> <p>Common or Multifactorial Obesity and Fetal Programming 705</p> <p>Neurobiology of Satiety and Hunger 705</p> <p>Hedonistic Signals and Addiction 706</p> <p>Behaviour, Hypothalamus and Obesogenic Environment 707</p> <p>Biology of Adipose Tissue and Adipocytes 707</p> <p>Microbiota 708</p> <p>Endocrinology of Obesity 709</p> <p>Epigenetics 709</p> <p>Social Inheritance 709</p> <p>Sociodemographics 710</p> <p>Nutrition and Malnutrition 710</p> <p>Physical Activity 711</p> <p>Sedentary Behaviour 711</p> <p>Endocrine‐Disrupting Chemicals and Toxicology 711</p> <p>Media Use 712</p> <p>Cultural Aspects 712</p> <p>Evolution 712</p> <p>Epidemiology 713</p> <p>Developed Countries 713</p> <p>Developing Countries 713</p> <p>Co‐Morbidities and Consequences 713</p> <p>Social Participation 718</p> <p>Mortality 719</p> <p>Health Economics 720</p> <p>Treatments 720</p> <p>Microbiota 723</p> <p>Urban Living 724</p> <p>Advertising Industries 724</p> <p>Conclusions 725</p> <p>Further Reading 726</p> <p>Weblinks 728</p> <p><b>18 Genetic Obesity Syndromes 729<br /></b><i>Tinh‐Hai Collet and I. Sadaf Farooqi</i></p> <p>Introduction 729</p> <p>Genetic Contributors to Obesity: The Evidence 729</p> <p>Genetic Obesity Syndromes: An Overview 730</p> <p>Obesity with Developmental Delay 730</p> <p>Obesity without Development Delay 732</p> <p>Conclusions 734</p> <p>References 734</p> <p>Weblinks 736</p> <p><b>19 Endocrine Care During Adolescence into Young Adulthood 737<br /></b><i>Helena Gleeson</i></p> <p>Introduction 737</p> <p>Adolescence and Young Adulthood 737</p> <p>Exploratory and Health‐Related Behaviours 740</p> <p>Addressing Adherence 743</p> <p>Young People with Endocrine Conditions 744</p> <p>Conclusion 750</p> <p>References 751</p> <p>Index 757</p>
<p><b>MEHUL T. DATTANI, MD, FRCP,</b> <b>FRCPCH,</b> is Professor of Pediatric Endocrinology at the UCL GOS Institute of Child Health and Head of Pediatric Endocrinology at Great Ormond Street Hospital for Children, University College London Hospitals, and Institute of Child Health. He is currently the Chair of the Programme Organising Committee of the European Society for Paediatric Endocrinology. <p><b>CHARLES G.D. BROOK, MA, MD, FRCP,</b> was the first Professor of Pediatric Endocrinology in the UK and the founder of the London Centre for Pediatric Endocrinology at Great Ormond Street Hospital and University College London Hospitals. He was the recipient of the Andrea Prader Prize in 2000, the most prestigious award for outstanding leadership and research in the gift of the European Society for Paediatric Endocrinology.
<p><b>An all-new edition of the classic, authoritative guide to clinical pediatric endocrinology</b> <p>The seventh edition of <i>Brook's Clinical Pediatric Endocrinology</i> has been compiled by an experienced editorial team and internationally renowned contributors; it presents basic science and clinical management of endocrine disorders for all involved in the care of children and adolescents. It provides treatments for a variety of hormonal diseases, including diabetes and hypoglycaemia, growth problems, thyroid disease and disorders of puberty, sexual differentiation, calcium metabolism, steroid metabolism and hypopituitarism. <p>Chapters cover: Genetics and Genomics; Principles of Hormone Action; Measuring Hormones, Molecular Tests and their Clinical Application; Congenital Disorders of the Hypothalamo- Pituitary-Somatotrope Axis; Acquired Disorders of the Hypothalamo-Pituitary Axis; Evaluation of Growth Disorders; Management of Disordered Growth; Evaluation and Management of Late Effects of Cancer Treatment; Evaluation and Management of Disorders of Sex Development; Evaluation of Disordered Puberty; Management of Disordered Puberty; The Thyroid; The Adrenal Cortex and its Disorders; Polyglandular Syndromes; Disorders of Water Balance; The Parathyroid and Disorders of Calcium and Bone Metabolism; Endocrine Neoplasia in Childhood; Diabetes Mellitus; Hypoglycemia: Assessment and Management; Childhood Obesity; Polycystic Ovarian Syndrome; Weight Regulation and Monogenic Obesity; and Ethical Issues in Clinical Pediatric Endocrinology. <ul> <li>The most authoritative and international reference volume in the field</li> <li>Completely new material and new contributor team for the 7th edition</li> <li>New emphasis on clinical aspects and patient management with more user-friendly layout and text features</li> <li>Written with a state-of-the-art translational medicine approach</li> <li>Includes weblinks, key learning points and questions designed to promote continuing medical education</li> </ul> <p><i>Brook's Clinical Pediatric Endocrinology</i>, <i>7th Edition</i> provides global best practice in the diagnosis and management of pediatric endocrine disorders and is a must-have text for those entering the field, as well as a trusted resource for pediatricians and endocrinologists in practice.

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