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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.
List of Contributors xix
Preface xxiii
About the Companion Website xxv
1 Genetics and Genomics 1Anu 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 31Gerhard 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 47Harshini 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 105Martine 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 133Hoong-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 199P.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 235Sasha 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 289Catherine 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 335Claire 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 409Jeremy 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 481Catherine 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 507Constantine 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 533Wassim 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 553Natascia 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 583G.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 671Pratik 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 701Wieland 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 705
Hedonistic Signals and Addiction 706
Behaviour, Hypothalamus and Obesogenic Environment 707
Biology of Adipose Tissue and Adipocytes 707
Microbiota 708
Endocrinology of Obesity 709
Epigenetics 709
Social Inheritance 709
Sociodemographics 710
Nutrition and Malnutrition 710
Physical Activity 711
Sedentary Behaviour 711
Endocrine-Disrupting Chemicals and Toxicology 711
Media Use 712
Cultural Aspects 712
Evolution 712
Epidemiology 713
Developed Countries 713
Developing Countries 713
Co-Morbidities and Consequences 713
Social Participation 718
Mortality 719
Health Economics 720
Treatments 720
Microbiota 723
Urban Living 724
Advertising Industries 724
Conclusions 725
Further Reading 726
Weblinks 728
18 Genetic Obesity Syndromes 729Tinh-Hai Collet and I. Sadaf Farooqi
Introduction 729
Genetic Contributors to Obesity: The Evidence 729
Genetic Obesity Syndromes: An Overview 730
Obesity with Developmental Delay 730
Obesity without Development Delay 732
Conclusions 734
References 734
Weblinks 736
19 Endocrine Care During Adolescence into Young Adulthood 737Helena Gleeson
Introduction 737
Adolescence and Young Adulthood 737
Exploratory and Health-Related Behaviours 740
Addressing Adherence 743
Young People with Endocrine Conditions 744
Conclusion 750
References 751
Index 757
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