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Die 7. Auflage von Brook's Clinical Pediatric Endocrinology wurde von einem erfahrenen Herausgeberteam erarbeitet und enthält Beiträge international erfahrener Experten. Präsentiert werden die wissenschaftlichen Grundlagen und das klinische Management von Hormonstörungen bei Kindern und Jugendlichen. Dieses Fachbuch stellt die Behandlungsoptionen für eine Vielzahl von hormonellen Störungen vor, darunter Diabetes und Hypoglykämie, Wachstumsstörungen, Schilddrüsenerkrankungen, Pubertätsstörungen, sexuelle Differenzierung, Störung des Kalzium- und Steroidstoffwechsels und Hypophyseninsuffizienz.
List of 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. Acherman
About the author
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.
Summary
Die 7. Auflage von Brook's Clinical Pediatric Endocrinology wurde von einem erfahrenen Herausgeberteam erarbeitet und enthält Beiträge international erfahrener Experten. Präsentiert werden die wissenschaftlichen Grundlagen und das klinische Management von Hormonstörungen bei Kindern und Jugendlichen. Dieses Fachbuch stellt die Behandlungsoptionen für eine Vielzahl von hormonellen Störungen vor, darunter Diabetes und Hypoglykämie, Wachstumsstörungen, Schilddrüsenerkrankungen, Pubertätsstörungen, sexuelle Differenzierung, Störung des Kalzium- und Steroidstoffwechsels und Hypophyseninsuffizienz.
