Brook's clinical pediatric endocrinology. (2020)

• Record Type: Book
• Other Titles: Clinical pediatric endocrinology
• Further Information: Note: Edited by Mehul T. Dattani, Charles G.D. Brook.
• Editors: Dattani, Mehul T; Brook, C. G. D (Charles Groves Darville)
• Contents: List of Contributors xix Preface xxiii About the Companion Website xxv 1 Genetics and Genomics 1; Anu Bashamboo and Ken McElreavey Introduction 1 Basic Concepts in Human Genetics and Genomics 1 Classes of RNA Molecules and their Functions 4 Gene Mutations and Inheritance 7 Human Populations and Genetic Variation 12 Epigenetics 14 Advances in Genomic Analysis 15 Establishing Variant Causality 19 The Age of Precision Medicine 24 Clinical Guidelines 24 Acknowledgments 25 Glossary of Terms 25 Further Reading 29 2 Measuring Hormones 31; Gerhard Binder Introduction 31 Hormone Assays 31 Assay Validity 33 Technical Pitfalls When Measuring Hormones 36 Clinical Assay Validity 38 Stimulation Tests, Suppression Tests and Profiles 42 Optimal Clinical Use of Hormone Tests 44 Acknowledgements 44 References 44 3 Fetal Endocrinology 47; Harshini Katugampola, Evelien F. Gevers, and Mehul T. Dattani Introduction 48 Transplacental Passage of Hormones 48 Development of Fetal Endocrine Systems 50 Neutralization of Hormone Activity in the Fetus 82 Plasticity of Fetal Endocrine Systems 84 Fetal Adaptations for Transition to Extrauterine Life 85 Frontiers in Fetal and Neonatal Endocrinology 89 References 90 4 Disorders of Sex Development 105; Martine Cools and Birgit Köhler Normal Sex Development 105 Terminology 106 Causes of DSD 107 Impaired Gonadal Development 108 Disturbances of Testicular Hormone Production or Action 113 Virilization of an XX Individual 116 Management of DSD 118 Clinical Management 122 Other Examples of XY DSD 126 Future Perspectives 127 References 127 Weblinks 131 5 Disorders of Hypothalamo‐Pituitary Axis 133; Hoong‐Wei Gan, Kyriaki‐Sandy Alatzoglou, and Mehul T. Dattani Introduction 133 The Hypothalamo‐Pituitary Neuroendocrine Axis 134 Hypothalamo‐Pituitary Development 134 Congenital Disorders of Hypothalamo‐Pituitary Development 144 Acquired Disorders of Hypothalamo‐Pituitary Dysfunction 155 Investigation of Hypopituitarism 172 Management of Hypopituitarism 173 Conclusion 174 References 174 6 Disorders of Growth 199; P.G. Murray and P.E. Clayton Normal Growth 200 Short Stature 205 Acquired GH Deficiency 211 Disorders of GH Action and GH Sensitivity (Primary IGF‐I Deficiency) 213 Growth Disorders not Related to the GH‐IGF Axis 216 Syndromes Associated with Short Stature 219 Idiopathic Short Stature 225 Skeletal Dysplasias 227 Tall Stature 229 References 233 7 Puberty and Its Disorders 235; Sasha R. Howard, Nicolas de Roux, Juliane Leger, Jean‐Claude Carel, and Leo Dunkel Normal Puberty 235 Precocious Puberty 256 Delayed Puberty 265 Conclusions 283 References 284 8 The Thyroid Gland 289; Catherine Peters and Nadia Schoenmakers Section 1: Development of the Thyroid Axis 289 Section 2: Clinical Thyroid Disorders 301 Section 3: Diagnostic Pitfalls 315 References 320 Weblinks 334 9 The Adrenal Cortex and Its Disorders 335; Claire R. Hughes, Elim Man, and John C. Achermann Introduction 335 Development, Function and Regulation of the Adrenal Gland 336 Adrenal Insufficiency (AI) 353 Adrenal Excess 393 Education, Support and Long‐Term Care 401 10 The Parathyroid and Disorders of Calcium and Bone Metabolism 409; Jeremy Allgrove and Moira Cheung Introduction 409 Physiology of Calcium and Bone Metabolism 409 Physiology of Bone Metabolism 421 Interactions between Calciotropic Agents 425 Fetal and Neonatal Calcium Metabolism 425 Post‐Neonatal Calcium, Phosphate and Magnesium Metabolism and the Calcium Cascade 426 Clinical Conditions 426 Drugs Used in the Treatment of Disorders of Calcium and Bone Metabolism 467 Summary 470 References 472 Weblinks 479 11 Polyglandular Autoimmune Syndromes 481; Catherine J. Owen, Mario Abinun, Simon H.S. Pearce, and Tim D. Cheetham Introduction 481 Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1) 483 Autoimmune Polyendocrinopathy Syndrome Type 2 and Associated Disorders 494 Other Single Gene Disorders Associated with Immune Dysregulation and Autoimmune Endocrinopathies 499 Conclusion 502 References 502 12 Endocrine Neoplasia 507; Constantine A. Stratakis and Emmanouil Saloustros Thyroid Neoplasia: Nodules and Cancer 507 Paragangliomas and Phaeochromocytomas 511 Adrenocortical Cancers 521 Tumours of the Ovary 524 Tumours of the Testes 528 References 530 13 Endocrine Late Effects of Cancer Treatments 533; Wassim Chemaitilly and Melissa M. Hudson Prevalence and Risk Factors for Endocrine Late Effects 538 Diagnosis and Management of Common Endocrine Late Effects 546 Summary 550 References 550 Weblinks 552 14 Disorders of Water Balance 553; Natascia Di Iorgi, Flavia Napoli, Giovanni Morana, and Mohamad Maghnie Regulation of Water Balance 554 Diabetes Insipidus (DI) 558 Central Diabetes Insipidus and Adipsia 572 Primary Polydipsia 572 Nephrogenic Diabetes Insipidus 573 The Syndrome of Inappropriate Antidiuretic Hormone Secretion 573 Management of Central Diabetes Insipidus 573 Treatment of Nephrogenic Diabetes Insipidus 574 Treatment of Inappropriate Antidiuretic Hormone Secretion 574 Challenges 575 Conclusions 575 Clinical Guidelines 575 References 576 15 Diabetes Mellitus 583; G.R. Ambler, F.J. Cameron, K. Joshi, and D.K. Wherrett Type 1 Diabetes 583 Type 2 Diabetes 626 Cystic Fibrosis‐Related Diabetes 637 Monogenic Forms of Diabetes 639 Rare Forms of Diabetes 647 Living with Diabetes 648 References 649 16 Disorders Associated with Hypoglycaemia in Children 671; Pratik Shah, Emma Footit, and Ritika Kapoor Introduction 671 Physiology of Blood Glucose Control 672 Role of Gut Hormones in Glucose Homeostasis 673 Metabolic Adaptation to Birth 673 Metabolic Adaptation to Feeding and Fasting 674 The Regulation of Insulin Secretion and Role of KATP Channels 675 Definition of Hypoglycaemia 676 Aetiology and Clinical Approach to Hypoglycaemia 678 Investigations for Hypoglycaemia 680 Emergency Management of Hypoglycaemia 682 Causes of Hypoglycaemia 682 17 Obesity 701; Wieland Kiess Introduction 701 Definitions, Differential Diagnosis, Assessments and Measurements 701 Aetiology of Obesity 703 Common or Multifactorial Obesity and Fetal Programming 705 Neurobiology of Satiety and Hunger
• Edition: Seventh edition
• Publisher Details: Hoboken, NJ : Wiley-Blackwell
• Publication Date: 2020
• Copyright Date: 2020
• Extent: 1 online resource
• Subjects: 618.92/4; Pediatric endocrinology; Endocrine System Diseases; Adolescent; Child; Infant; Pediatric endocrinology; Electronic books
• Languages: English
• ISBNs: 9781119152699; 1119152690; 9781119152705; 1119152704; 9781119152712; 1119152712
• Related ISBNs: 9781119152682; 1119152682
• Notes: Note: Includes bibliographical references and index.; Note: Description based on online resource; title from digital title page (viewed on November 25, 2019).
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.