Pediatric Endocrinology and Inborn Errors of Metabolism (2nd Edition)

Description

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

A Doody’s Core Title for 2020! 

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, Second Edition.

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 you through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Pediatric Endocrinology and Inborn Errors of Metabolism, Second Edition successfully balances authority and comprehensiveness with a strong clinical, practical approach that delivers an unmatched integrated discussion of the fields.

Key Features

• 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
• All-inclusive coverage encompasses the full spectrum of critical topics
• Emergency assessment and treatment chapter gives you fast, clear guidance on acute presentations of endocrine and metabolic disorders
• Chapter on newborn screening walks you through an abnormal screening result to follow-up diagnostic testing
• Complete and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplines

If you’re in need of a clinically focused learning tool that bridges the gap between endocrinology and inborn metabolic disorders, your search ends here.

Table of Contents

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

Authors Biography

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.