MEHUL T. DATTANI, MD, FRCP, FRCPCH, 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. CHARLES G.D. BROOK, MA, MD, FRCP, 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.

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• List of Contributors xixPreface xxiiiAbout the Companion Website xxv1 Genetics and Genomics 1Anu Bashamboo and Ken McElreaveyIntroduction 1Basic Concepts in Human Genetics and Genomics 1Classes of RNA Molecules and their Functions 4Gene Mutations and Inheritance 7Human Populations and Genetic Variation 12Epigenetics 14Advances in Genomic Analysis 15Establishing Variant Causality 19The Age of Precision Medicine 24Clinical Guidelines 24Acknowledgments 25Glossary of Terms 25Further Reading 292 Measuring Hormones 31Gerhard BinderIntroduction 31Hormone Assays 31Assay Validity 33Technical Pitfalls When Measuring Hormones 36Clinical Assay Validity 38Stimulation Tests, Suppression Tests and Profiles 42Optimal Clinical Use of Hormone Tests 44Acknowledgements 44References 443 Fetal Endocrinology 47Harshini Katugampola, Evelien F. Gevers, and Mehul T. DattaniIntroduction 48Transplacental Passage of Hormones 48Development of Fetal Endocrine Systems 50Neutralization of Hormone Activity in the Fetus 82Plasticity of Fetal Endocrine Systems 84Fetal Adaptations for Transition to Extrauterine Life 85Frontiers in Fetal and Neonatal Endocrinology 89References 904 Disorders of Sex Development 105Martine Cools and Birgit KöhlerNormal Sex Development 105Terminology 106Causes of DSD 107Impaired Gonadal Development 108Disturbances of Testicular Hormone Production or Action 113Virilization of an XX Individual 116Management of DSD 118Clinical Management 122Other Examples of XY DSD 126Future Perspectives 127References 127Weblinks 1315 Disorders of Hypothalamo‐Pituitary Axis 133Hoong‐Wei Gan, Kyriaki‐Sandy Alatzoglou, and Mehul T. DattaniIntroduction 133The Hypothalamo‐Pituitary Neuroendocrine Axis 134Hypothalamo‐Pituitary Development 134Congenital Disorders of Hypothalamo‐Pituitary Development 144Acquired Disorders of Hypothalamo‐Pituitary Dysfunction 155Investigation of Hypopituitarism 172Management of Hypopituitarism 173Conclusion 174References 1746 Disorders of Growth 199P.G. Murray and P.E. ClaytonNormal Growth 200Short Stature 205Acquired GH Deficiency 211Disorders of GH Action and GH Sensitivity (Primary IGF‐I Deficiency) 213Growth Disorders not Related to the GH‐IGF Axis 216Syndromes Associated with Short Stature 219Idiopathic Short Stature 225Skeletal Dysplasias 227Tall Stature 229References 2337 Puberty and Its Disorders 235Sasha R. Howard, Nicolas de Roux, Juliane Leger, Jean‐Claude Carel, and Leo DunkelNormal Puberty 235Precocious Puberty 256Delayed Puberty 265Conclusions 283References 2848 The Thyroid Gland 289Catherine Peters and Nadia SchoenmakersSection 1: Development of the Thyroid Axis 289Section 2: Clinical Thyroid Disorders 301Section 3: Diagnostic Pitfalls 315References 320Weblinks 3349 The Adrenal Cortex and Its Disorders 335Claire R. Hughes, Elim Man, and John C. AchermannIntroduction 335Development, Function and Regulation of the Adrenal Gland 336Adrenal Insufficiency (AI) 353Adrenal Excess 393Education, Support and Long‐Term Care 40110 The Parathyroid and Disorders of Calcium and Bone Metabolism 409Jeremy Allgrove and Moira CheungIntroduction 409Physiology of Calcium and Bone Metabolism 409Physiology of Bone Metabolism 421Interactions between Calciotropic Agents 425Fetal and Neonatal Calcium Metabolism 425Post‐Neonatal Calcium, Phosphate and Magnesium Metabolism and the Calcium Cascade 426Clinical Conditions 426Drugs Used in the Treatment of Disorders of Calcium and Bone Metabolism 467Summary 470References 472Weblinks 47911 Polyglandular Autoimmune Syndromes 481Catherine J. Owen, Mario Abinun, Simon H.S. Pearce, and Tim D. CheethamIntroduction 481Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1) 483Autoimmune Polyendocrinopathy Syndrome Type 2 and Associated Disorders 494Other Single Gene Disorders Associated with Immune Dysregulation and Autoimmune Endocrinopathies 499Conclusion 502References 50212 Endocrine Neoplasia 507Constantine A. Stratakis and Emmanouil SaloustrosThyroid Neoplasia: Nodules and Cancer 507Paragangliomas and Phaeochromocytomas 511Adrenocortical Cancers 521Tumours of the Ovary 524Tumours of the Testes 528References 53013 Endocrine Late Effects of Cancer Treatments 533Wassim Chemaitilly and Melissa M. HudsonPrevalence and Risk Factors for Endocrine Late Effects 538Diagnosis and Management of Common Endocrine Late Effects 546Summary 550References 550Weblinks 55214 Disorders of Water Balance 553Natascia Di Iorgi, Flavia Napoli, Giovanni Morana, and Mohamad MaghnieRegulation of Water Balance 554Diabetes Insipidus (DI) 558Central Diabetes Insipidus and Adipsia 572Primary Polydipsia 572Nephrogenic Diabetes Insipidus 573The Syndrome of Inappropriate Antidiuretic Hormone Secretion 573Management of Central Diabetes Insipidus 573Treatment of Nephrogenic Diabetes Insipidus 574Treatment of Inappropriate Antidiuretic Hormone Secretion 574Challenges 575Conclusions 575Clinical Guidelines 575References 57615 Diabetes Mellitus 583G.R. Ambler, F.J. Cameron, K. Joshi, and D.K. WherrettType 1 Diabetes 583Type 2 Diabetes 626Cystic Fibrosis‐Related Diabetes 637Monogenic Forms of Diabetes 639Rare Forms of Diabetes 647Living with Diabetes 648References 64916 Disorders Associated with Hypoglycaemia in Children 671Pratik Shah, Emma Footit, and Ritika KapoorIntroduction 671Physiology of Blood Glucose Control 672Role of Gut Hormones in Glucose Homeostasis 673Metabolic Adaptation to Birth 673Metabolic Adaptation to Feeding and Fasting 674The Regulation of Insulin Secretion and Role of KATP Channels 675Definition of Hypoglycaemia 676Aetiology and Clinical Approach to Hypoglycaemia 678Investigations for Hypoglycaemia 680Emergency Management of Hypoglycaemia 682Causes of Hypoglycaemia 68217 Obesity 701Wieland KiessIntroduction 701Definitions, Differential Diagnosis, Assessments and Measurements 701Aetiology of Obesity 703Common or Multifactorial Obesity and Fetal Programming 705Neurobiology of Satiety and Hunger 705Hedonistic Signals and Addiction 706Behaviour, Hypothalamus and Obesogenic Environment 707Biology of Adipose Tissue and Adipocytes 707Microbiota 708Endocrinology of Obesity 709Epigenetics 709Social Inheritance 709Sociodemographics 710Nutrition and Malnutrition 710Physical Activity 711Sedentary Behaviour 711Endocrine‐Disrupting Chemicals and Toxicology 711Media Use 712Cultural Aspects 712Evolution 712Epidemiology 713Developed Countries 713Developing Countries 713Co‐Morbidities and Consequences 713Social Participation 718Mortality 719Health Economics 720Treatments 720Microbiota 723Urban Living 724Advertising Industries 724Conclusions 725Further Reading 726Weblinks 72818 Genetic Obesity Syndromes 729Tinh‐Hai Collet and I. Sadaf FarooqiIntroduction 729Genetic Contributors to Obesity: The Evidence 729Genetic Obesity Syndromes: An Overview 730Obesity with Developmental Delay 730Obesity without Development Delay 732Conclusions 734References 734Weblinks 73619 Endocrine Care During Adolescence into Young Adulthood 737Helena GleesonIntroduction 737Adolescence and Young Adulthood 737Exploratory and Health‐Related Behaviours 740Addressing Adherence 743Young People with Endocrine Conditions 744Conclusion 750References 751Index 757

MEHUL T. DATTANI, MD, FRCP, FRCPCH, 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. CHARLES G.D. BROOK, MA, MD, FRCP, 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.

Select Guide Rating

• List of Contributors xixPreface xxiiiAbout the Companion Website xxv1 Genetics and Genomics 1Anu Bashamboo and Ken McElreaveyIntroduction 1Basic Concepts in Human Genetics and Genomics 1Classes of RNA Molecules and their Functions 4Gene Mutations and Inheritance 7Human Populations and Genetic Variation 12Epigenetics 14Advances in Genomic Analysis 15Establishing Variant Causality 19The Age of Precision Medicine 24Clinical Guidelines 24Acknowledgments 25Glossary of Terms 25Further Reading 292 Measuring Hormones 31Gerhard BinderIntroduction 31Hormone Assays 31Assay Validity 33Technical Pitfalls When Measuring Hormones 36Clinical Assay Validity 38Stimulation Tests, Suppression Tests and Profiles 42Optimal Clinical Use of Hormone Tests 44Acknowledgements 44References 443 Fetal Endocrinology 47Harshini Katugampola, Evelien F. Gevers, and Mehul T. DattaniIntroduction 48Transplacental Passage of Hormones 48Development of Fetal Endocrine Systems 50Neutralization of Hormone Activity in the Fetus 82Plasticity of Fetal Endocrine Systems 84Fetal Adaptations for Transition to Extrauterine Life 85Frontiers in Fetal and Neonatal Endocrinology 89References 904 Disorders of Sex Development 105Martine Cools and Birgit KöhlerNormal Sex Development 105Terminology 106Causes of DSD 107Impaired Gonadal Development 108Disturbances of Testicular Hormone Production or Action 113Virilization of an XX Individual 116Management of DSD 118Clinical Management 122Other Examples of XY DSD 126Future Perspectives 127References 127Weblinks 1315 Disorders of Hypothalamo‐Pituitary Axis 133Hoong‐Wei Gan, Kyriaki‐Sandy Alatzoglou, and Mehul T. DattaniIntroduction 133The Hypothalamo‐Pituitary Neuroendocrine Axis 134Hypothalamo‐Pituitary Development 134Congenital Disorders of Hypothalamo‐Pituitary Development 144Acquired Disorders of Hypothalamo‐Pituitary Dysfunction 155Investigation of Hypopituitarism 172Management of Hypopituitarism 173Conclusion 174References 1746 Disorders of Growth 199P.G. Murray and P.E. ClaytonNormal Growth 200Short Stature 205Acquired GH Deficiency 211Disorders of GH Action and GH Sensitivity (Primary IGF‐I Deficiency) 213Growth Disorders not Related to the GH‐IGF Axis 216Syndromes Associated with Short Stature 219Idiopathic Short Stature 225Skeletal Dysplasias 227Tall Stature 229References 2337 Puberty and Its Disorders 235Sasha R. Howard, Nicolas de Roux, Juliane Leger, Jean‐Claude Carel, and Leo DunkelNormal Puberty 235Precocious Puberty 256Delayed Puberty 265Conclusions 283References 2848 The Thyroid Gland 289Catherine Peters and Nadia SchoenmakersSection 1: Development of the Thyroid Axis 289Section 2: Clinical Thyroid Disorders 301Section 3: Diagnostic Pitfalls 315References 320Weblinks 3349 The Adrenal Cortex and Its Disorders 335Claire R. Hughes, Elim Man, and John C. AchermannIntroduction 335Development, Function and Regulation of the Adrenal Gland 336Adrenal Insufficiency (AI) 353Adrenal Excess 393Education, Support and Long‐Term Care 40110 The Parathyroid and Disorders of Calcium and Bone Metabolism 409Jeremy Allgrove and Moira CheungIntroduction 409Physiology of Calcium and Bone Metabolism 409Physiology of Bone Metabolism 421Interactions between Calciotropic Agents 425Fetal and Neonatal Calcium Metabolism 425Post‐Neonatal Calcium, Phosphate and Magnesium Metabolism and the Calcium Cascade 426Clinical Conditions 426Drugs Used in the Treatment of Disorders of Calcium and Bone Metabolism 467Summary 470References 472Weblinks 47911 Polyglandular Autoimmune Syndromes 481Catherine J. Owen, Mario Abinun, Simon H.S. Pearce, and Tim D. CheethamIntroduction 481Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1) 483Autoimmune Polyendocrinopathy Syndrome Type 2 and Associated Disorders 494Other Single Gene Disorders Associated with Immune Dysregulation and Autoimmune Endocrinopathies 499Conclusion 502References 50212 Endocrine Neoplasia 507Constantine A. Stratakis and Emmanouil SaloustrosThyroid Neoplasia: Nodules and Cancer 507Paragangliomas and Phaeochromocytomas 511Adrenocortical Cancers 521Tumours of the Ovary 524Tumours of the Testes 528References 53013 Endocrine Late Effects of Cancer Treatments 533Wassim Chemaitilly and Melissa M. HudsonPrevalence and Risk Factors for Endocrine Late Effects 538Diagnosis and Management of Common Endocrine Late Effects 546Summary 550References 550Weblinks 55214 Disorders of Water Balance 553Natascia Di Iorgi, Flavia Napoli, Giovanni Morana, and Mohamad MaghnieRegulation of Water Balance 554Diabetes Insipidus (DI) 558Central Diabetes Insipidus and Adipsia 572Primary Polydipsia 572Nephrogenic Diabetes Insipidus 573The Syndrome of Inappropriate Antidiuretic Hormone Secretion 573Management of Central Diabetes Insipidus 573Treatment of Nephrogenic Diabetes Insipidus 574Treatment of Inappropriate Antidiuretic Hormone Secretion 574Challenges 575Conclusions 575Clinical Guidelines 575References 57615 Diabetes Mellitus 583G.R. Ambler, F.J. Cameron, K. Joshi, and D.K. WherrettType 1 Diabetes 583Type 2 Diabetes 626Cystic Fibrosis‐Related Diabetes 637Monogenic Forms of Diabetes 639Rare Forms of Diabetes 647Living with Diabetes 648References 64916 Disorders Associated with Hypoglycaemia in Children 671Pratik Shah, Emma Footit, and Ritika KapoorIntroduction 671Physiology of Blood Glucose Control 672Role of Gut Hormones in Glucose Homeostasis 673Metabolic Adaptation to Birth 673Metabolic Adaptation to Feeding and Fasting 674The Regulation of Insulin Secretion and Role of KATP Channels 675Definition of Hypoglycaemia 676Aetiology and Clinical Approach to Hypoglycaemia 678Investigations for Hypoglycaemia 680Emergency Management of Hypoglycaemia 682Causes of Hypoglycaemia 68217 Obesity 701Wieland KiessIntroduction 701Definitions, Differential Diagnosis, Assessments and Measurements 701Aetiology of Obesity 703Common or Multifactorial Obesity and Fetal Programming 705Neurobiology of Satiety and Hunger 705Hedonistic Signals and Addiction 706Behaviour, Hypothalamus and Obesogenic Environment 707Biology of Adipose Tissue and Adipocytes 707Microbiota 708Endocrinology of Obesity 709Epigenetics 709Social Inheritance 709Sociodemographics 710Nutrition and Malnutrition 710Physical Activity 711Sedentary Behaviour 711Endocrine‐Disrupting Chemicals and Toxicology 711Media Use 712Cultural Aspects 712Evolution 712Epidemiology 713Developed Countries 713Developing Countries 713Co‐Morbidities and Consequences 713Social Participation 718Mortality 719Health Economics 720Treatments 720Microbiota 723Urban Living 724Advertising Industries 724Conclusions 725Further Reading 726Weblinks 72818 Genetic Obesity Syndromes 729Tinh‐Hai Collet and I. Sadaf FarooqiIntroduction 729Genetic Contributors to Obesity: The Evidence 729Genetic Obesity Syndromes: An Overview 730Obesity with Developmental Delay 730Obesity without Development Delay 732Conclusions 734References 734Weblinks 73619 Endocrine Care During Adolescence into Young Adulthood 737Helena GleesonIntroduction 737Adolescence and Young Adulthood 737Exploratory and Health‐Related Behaviours 740Addressing Adherence 743Young People with Endocrine Conditions 744Conclusion 750References 751Index 757