Pediatric endocrinology and inborn errors of metabolism, 2nd Edition – Kyriakie Sarafoglou

This book is designed as a source of practical information for the diagnosis and manage­ment of pediatric patients with endocrine diseases and inborn errors of metabolism. From its conception, Pediatric Endocrinology and Inborn Errors of Metabolism (PEIEM) was created with this dual purpose: to be both a comprehensive, clinically-focused medical reference for a broad audience from specialist nurses and general physicians to specialists in each discipline, and to be an information bridge providing inroads into the fundamen­tal concepts of the two interrelated disciplines. The contributors and editorial team strove to make the chapters on inborn errors approach­able by endocrinologists and the endocrine chapters approachable by metabolic special­ists through what became the underlying precept of the textbook—explanation, not simplification. Following this paradigm, chapters first elucidate the mechanisms underlying a disorder and how they relate to the corresponding phenotypes through clinically relevant discussions of genetics and pathophysiology, thus framing the basis of disease; and second, provide complete and detailed discussions of clinical features, labo­ratory evaluations, treatment modalities, and follow-up management. Rather than sim­ply listing signs and symptoms under the assumption that their occurrence within a disorder is always self-explanatory, PEIEM explains through the pathophysiology why and how these manifestations occur and how they can be approached, modified, or pre­vented. As a result of this step-wise approach, we hope that medical professionals at any level involved in caring for endocrine and metabolic patients will find this textbook a useful and comprehensive resource.

We are very grateful for the wide accep­tance the first edition of PEIEM quickly achieved and are proud of recognition such as the Medical Book Award of the British Med­ical Association in 2010. In 2009, the New England Journal of Medicine review stated “it is a unique book that is pleasing to the eye, nurturing for the mind, and instructive for a broad readership” It has quickly become an in-depth clinical reference resource for inborn errors of metabolism and pediatric endocrinology.

Since PEIEM’s release in 2009, huge advances of knowledge and important improvements in diagnostics as well as therapeutic approaches necessitated a second edition. This allowed the corrections of some errors of the first edition that maybe only authors and editors spotted, as well as the inclusion of additional disorders not covered previously and those that were recently iden­tified. Following a stringent concept, it was still possible to provide even more detailed and clinically relevant information concern­ing presentation, diagnosis, and treatment of more than 700 disorders within a single vol­ume. To achieve this goal, we had to address the question “What is the most pertinent information needed for the practicing phy­sician to fully understand the etiology and pathophysiology of a disease in order to make informed decisions concerning the diagnosis and management of a patient?” To remain a single volume, we focused on describing disease pathogenesis, clinical presentation, and therapy, and where relevant, the most frequently recurring mutations in relation to phenotype, rather than lengthy discussions of a disorder’s historical background and item­ized accounts of the discovery of each muta­tion, both of which can be found in many textbooks and established internet databases.

Contents:

Contributors
Preface

PART I. NEWBORN SCREENING, EMERGENCY TREATMENT, AND MOLECULAR TESTING
Chapter 1. Newborn Screening
Chapter 2. Emergency Assessment and Management of Suspected Inborn Errors of Metabolism and Endocrine Disorders
Chapter 3. Introduction to Molecular Testing Including Exome/Genome Sequencing

PART II. DISORDERS OF FUEL METABOLISM
Chapter 4. Hyperinsulinism
Chapter 5. Glycogen Storage Diseases
Chapter 6. The Galactosemias
Chapter 7. Disorders of Fructose Metabolism
Chapter 8. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
Chapter 9. Mitochondrial Fatty Acid Oxidation Defects
Chapter 10. Ketone Synthesis and Utilization Defects
Chapter 11. Oxidative Phosphorylation Diseases
Chapter 12. Creatine Deficiency Syndromes
Chapter 13. Urea Cycle Disorders
Chapter 14. Organic Acidurias
Chapter 15. Phenylketonuria
Chapter 16. Hyperphenylalaninemias. Disorders of Tetrahydrobiopterin Metabolism
Chapter 17. Tyrosinemias and Other Disorders of Tyrosine Degradation
Chapter 18. Disorders of Transsulfuration
Chapter 19. Inborn Errors of Folate and Cobalamin Transport and Metabolism
Chapter 20. Diabetes Mellitus
Chapter 21. Child and Adolescent Obesity
Chapter 22. Lipids and Lipoprotein Abnormalities
Chapter 23. Defects of Cholesterol Biosynthesis
Chapter 24. Inborn Errors of Peroxisome Biogenesis and Function
Chapter 25. Genetic Defects in Synthesis and Transport of Bile Acids
Chapter 26. The Porphyrias

PART III. THYROID GLAND DISORDERS
Chapter 27. Disorders of the Thyroid Gland

PART IV. DISORDERS OF THE ADRENALS
Chapter 28. Adrenal Insufficiency
Chapter 29. Congenital Adrenal Hyperplasia
Chapter 30. Cushing Syndrome

PART V. DISORDERS OF GROWTH AND PUBERTY
Chapter 31. Disorders of Growth
Chapter 32. Turner Syndrome
Chapter 33. Developmental Disorders of the Anterior Pituitary
Chapter 34. Precocious Puberty
Chapter 35. Variants of Pubertal Progression

PART VI. DISORDERS OF THE REPRODUCTIVE SYSTEM
Chapter 36. Disorders of Sex Development
Chapter 37. Female Hypogonadism
Chapter 38. Male Hypogonadism
Chapter 39. Vaginal Bleeding and Menstrual Disorders

PART VII. BONE AND MINERAL DENSITY
Chapter 40. Disorders of Calcium, Phosphate, and Bone Metabolism
Chapter 41. Disorders of Mineral Metabolism (Iron, Copper, Zinc, and Molybdenum)

PART VIII. DISORDERS OF WATER METABOLISM AND TRANSPORT SYSTEMS
Chapter 42. Disorders of Water Metabolism
Chapter 43. Disorders of Membrane Transport

PART IX. SELECT DISORDERS OF COMPLEX MOLECULE BIOSYNTHESIS
Chapter 44. Congenital Disorders of Glycosylation
Chapter 45. Lysosomal Disorders
Chapter 46. Purine and Pyrimidine Metabolism

PART X. NEUROTRANSMITTER DEFICIENCIES
Chapter 47. Neurotransmitter Disorders

PART XI. ENDOCRINE-RELATED NEOPLASIAS
Chapter 48. Endocrine-Related Cancer
Chapter 49. Endocrine Problems in Pediatric Cancer Survivors

PART XII. ENDOCRINE AND METABOLIC LABORATORY AND RADIOLOGIC TESTING
Chapter 50. Laboratory Investigations of Inborn Errors of Metabolism
Chapter 51. Endocrine Testing
Chapter 52. Diagnostic Imaging
Index

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