Using an innovative, user-friendly approach, the editors and a team of internationally known contributors provide clear, comprehensive, and practical guidance on the diagnosis and management of endocrine and metabolic disorders in children. Readers will find expert coverage of the principles of assessing signs and symptoms, concise clinical reviews, and clear direction on laboratory tests.

Table of contents

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

Editor:

Kyriakie Sarafoglou, MD

Director, Leo Fung Center for Congenital Adrenal Hyperplasia

& Disorders of Sex Development

Division of Pediatric Endocrinology

Division of Genetics & Metabolism

University of Minnesota Medical School

University of Minnesota Children's Hospital-Fairview

Minneapolis, MN

Associate Editors:

Georg F. Hoffman, MD, Univ.-Prof. Dr. med., Prof. h.c. (RCH),

Geschaftsfuhrender Direktor

Universitats-Kinderklinik

Direktor Abteilung I (Schwerpunkte: Allgemeine Kinderheilkunde

Stoffwechsel, Gastroenterologie, Nephrologie)

Heidelberg, Baden-Wurttemberg, Germany

Karl S. Roth, MD

Professor and Chair

Department of Pediatrics

Creighton University School of Medicine

Omaha, NE