Pediatric Endocrinology and Inborn Errors of Metabolism

The acclaimed clinical guide to managing both pediatric endocrine disorders and inborn errors of metabolism

No other text so skillfully blends the disciplines of endocrinology and inborn metabolic disorders into one clinically focused, highly visual resource as Pediatric Endocrinology and Inborn Errors of Metabolism.

In this practical, user-friendly tutorial, a team of international contributors delivers the latest information and clinical insights clinicians need to confidently diagnose and manage pediatric patients. This full-color resource guides readers through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Pediatric Endocrinology and Inborn Errors of Metabolism successfully balances authority and comprehensiveness with a strong clinical, practical approach that delivers an unmatched integrated discussion of the fields.

·         Full-color presentation with numerous photos, illustrations, diagnostic algorithms, tables, and text boxes that summarize key concepts and assist in the decision-making process

    At-a-Glance feature beginning each disease-based chapter summarizes all the clinical information you need to differentiate between disorder sub-types in one easy-to-find place
    Complete and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplines

Contributors
Preface
PART I: EMERGENCY TREATMENT, NEWBORN SCREENING, AND MOLECULAR TESTING
1. Emergency Assessment and Management of Suspected Inborn Errors of Metabolism and Endocrine Disorders, Susan A. Berry, Brandon Nathan, Georg F. Hoffmann, Kyriakie Sarafoglou
2. Newborn Screening, Andreas Schulze, Dietrich Matern, Georg F. Hoffmann
3. Molecular Testing for Endocrine and Metabolic Disorders, Johannes Zschocke
PART II: DISORDERS OF FUEL METABOLISM
4. Hyperinsulinism, Andrea Kelly, Charles A. Stanley
5. Mitochondrial Fatty Acid Oxidation Defects, Arnold W. Strauss, Brage S. Andresen, Michael J. Bennett
6. Glycogen Storage Diseases, David A. Weinstein, Karl S. Roth, Joseph I. Wolfsdorf
7. Organic Acidurias, Georg F. Hoffmann, Andreas Schulze
8. Ketone Synthesis and Utilization Defects, Claude Sansaricq, Sherly Pardo Reoyo
9. The Galactosemias, Karl S. Roth, Claude Sansaricq
10. Disorders of Fructose Metabolism, Claude Sansaricq, Manisha Balwani
11. Urea Cycle Disorders, Marshall L. Summar
12. Creatine Deficiency Syndromes, Andreas Schulze
13. Phenylketonuria, Peter Burgard, Ziaoping Luo, Georg F. Hoffmann
14. Hyperphenylalaninemias: Disorders of Tetrahydrobiopterin Metabolism, Nenad Blau, Beat Thony
15. Tyrosinemia and Other Disorders of Tyrosine Degradation, James V. Leonard, Andrew A.M. Morris
16. Disorders of Transsulfuration, Brian Fowler
17. Inborn Errors of Folate and Cobalamin Transport and Metabolism, Chantal F. Morel, David S. Rosenblatt
18. Oxidative Phosphorylation Diseases and Mitochondrial DNA Depletion Syndrome, Mark A. Tarnopolsky, Sandeep Raha
19. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle, Douglas S. Kerr, Arthur B. Zinn
20. Diabetes Mellitus, Constantin Polychronakos, Costa Voulgaropoulos, Zubin Punthakee
21. Overweight and Obesity, Stephen B. Sondike
22. Lipids and Lipoprotein Abnormalities, Juergen R. Schafer, Muhidien Soufi, Julia Steinberger, Ertan Mayatepek
23. Defects of Cholesterol Biosynthesis, Dorothea Haas, Richard I. Kelley, Georg F. Hoffmann
24. Inborn Errors of Peroxisome Biogenesis and Function, Ronald J.A. Wanders
25. Congenital Disorders of Glycosylation, Christian Korner, Christian Thiel, Georg F. Hoffmann
PART III: DISORDERS OF THE THYROID GLAND
26. Disorders of the Thyroid Gland, Michel Polak, Guy Van Vliet
PART IV: DISORDERS OF THE ADRENALS
27. Congenital Adrenal Hyperplasia, Kyriakie Sarafoglou, Kathryn D. Harrington, Walter O. Bockting
28. Cushing Syndrome in Children and Adolescents, Maria Alexandra Magiakou, Kyriakie Sarafoglou, Constantine A. Stratakis, George P. Chrousos
29. Adrenal Insufficiency, Lynda E. Polgreen, Kyriakie Sarafoglou, Anna Petryk
PART V: DISORDERS OF GROWTH AND PUBERTY
30. Disorders of Growth, Stephen F. Kemp, J. Paul Frindik
31. Turner Syndrome, Constantine A. Stratakis, Kyriakie Sarafoglou, Bradley S. Miller
32. Developments Disorders of the Anterior Pituitary, Brigitte Frohnert, Bradley S. Miller
33. Precocious Puberty, Melena Bellin, Kyriakie Sarafoglou, Brandon Nathan
34. Variants of Pubertal Progression, Betsey Schwartz, Kyriakie Sarafoglou, Christopher P. Houk, Peter A. Lee
PART VI: DISORDERS OF THE REPRODUCTIVE SYSTEM
35. Disorders of Sex Development, Eric Vilain, Kyriakie Sarafoglou, Nadir Yehya
36. Female Hypogonadism, Bala Bhagavath, Bruce R. Carr
37. Male Hypogonadism, Darius A. Paduch, Peter N. Schlegel
38. Adolescent Menstrual Disorders, Hilary Smith, Mitchell P. Rosen, Marcelle I. Cedars
PART VII: DISORDERS OF BONE AND MINERAL METABOLISM
39. Disorders of Calcium, Phosphate, and Bone Metabolism, Karl S. Roth, Robert J. Ward, James C.M. Chan, Kyriakie Sarafoglou
40. Disorders of Mineral Metabolism (Iron, Copper, Zine, and Molybdenum), David M. Koeller
PART VIII: DISORDERS OF WATER METABOLISM AND TRANSPORT SYSTEMS
41. Disorders of Water Metabolism, Tim Cheetham, Stephen Ball
42. Disorders of Membrane Transport, Karl. S. Roth
PART IX: SELECT DISORDERS OF COMPLEX MOLECULE BIOSYNTHESIS
43. Lysosomal Disorders, Gregory M. Enns, Robert D. Steiner, Tina M. Cowan
44. Purine and Pyrimidine Metabolism, William L. Nyhan
PART X: NEUROTRANSMITTER DEFICIENCIES
45. Neurotransmitter Disorders, Keith Hyland, K. Michael Gibson, Radhakant Sharma, Johan L.K. van Hove, Georg F. Hoffmann
PART XI: ENDOCRINE-RELATED NEOPLASIAS
46. Endocrine-Related Cancer, Constantine A. Stratakis, Karel Pacak, Jordan Pinsker, Andrew J. Bauer
47. Endocrine Problems in Pediatric Cancer Survivors, Thomas Moshang, Jr., Sogol Mostoufi-Moab
PART XII: ENDOCRINE AND METABOLIC LABORATORY AND RADIOLOGY TESTS
48. Laboratory Investigations of Inborn Errors of Metabolism, Tina M. Cowan, Chunli Yu
49. Endocrine Testing, Bradley S. Miller, Irene Hong McAtee
50. Radiographic Imaging, Kumud Sane, Shashikant M. Sane
Index

Kyriakie Sarafoglou, MD, is Director, Leo Fung Center for Congenital Adrenal Hyperplasia and Disorders of Sex Development, Division of Pediatric Endocrinology, Division of Genetics and Metabolism, University of Minnesota Medical School, Minneapolis, Minnesota.

Georg F. Hoffmann, MD, Univ.-Prof. Dr. med., Prof. h.c. mult. (RCH) is Professor and Chair, University Children's Hospital, Ruprecht-Karls-University Heidelberg, Heidelberg, Baden-Wurttemberg, Germany.

Karl S. Roth, MD is Professor and Chair (Retired), Department of Pediatrics, Creighton University School of Medicine, Omaha, Nebraska.