Pediatric Endocrinology and Inborn Errors of Metabolism

by Sarafoglou, Kyriakie; Hoffmann, Georg; Roth, Karl

• ISBN13: 9780071439152
• ISBN10: 0071439153
• Edition: 1st
• Format: Hardcover
• Copyright: 2008-12-24
• Publisher: McGraw-Hill Education / Medical

Summary

Fast, crystal-clear guidance on managing both pediatric endocrine disorders and inborn errors of metabolismNew England Journal of Medicine Review! "...an inspiring learning tool....Sarafoglou and colleagues have combined their expertise to create an informative and timely textbook in which the explanations of underlying mechanisms guide the structure of each chapter. It is a unique book that is pleasing to the eye, nurturing for the mind, and instructive for a broad readership."--New England Journal of Medicine4 STAR DOODY'S REVIEW! "The book covers various pathophysiologic aspects of each endocrine organ and its interaction with other endocrine and nonendocrine systems. Disorders of thyroid and adrenal glands, pituitary, reproductive organs, and endocrine neoplasia are extensively covered. Most large groups of metabolic diseases are reviewed as well. Concise, pertinent information is provided on mitochondrial and fatty-acid oxidation, urea cycle and glycogen storage disorders, as well as organic acidurias and amino acidopathies. The most useful and user-friendly areas are the 1-to-2-page "at-a-glance" sections in each chapter which provide concise yet pertinent information about the disorders within a particular group of endocrine disturbances or IEM. This is a well written book and the multiple visual aids greatly assist in comprehension and memorization of the material...I strongly recommend this book without reservation." --Doody'sIn one practical, user-friendly tutorial, a team of international contributors delivers the latest information and clinical insights you 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.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

Author Biography

Kyriakie Sarafogiou, MD - University of Minnesota School of Medicine

Georg Hoffman, MD - University of Children's Hospital, Heidelberg, Germany

Antoinette Moran, MD - University of Minnesota School of Medicine

Table of Contents

Purpose: Essential Pediatric Endocrinology and Metabolism, presented in a simplified narrative with a hyper reliance on algorithms and tables targeted for residents, pediatricians and non-endocrine pediatric specialists who need concise and understandable answers to their endocrine and metabolic questions.

PREFACE

Purpose/how to use this book.

INTRODUCTION

1. Classic Features/Cardinal Manifestations of endocrine and metabolic disorders.

2. Pathophysiology of endocrine system (feedback, receptors, hormones, etc).

3.Pathophysiology of metabolism (mitochondrial, gluconeogenesis, Krebs Cycle, etc).

4. Interaction of endocrine/metabolic system and with other systems (Skeletal/Cardiac/MuscleCNS, etc).

5. Approach to the Endocrine and Metabolic Patient

DISORDERS OF FUEL METABOLISM

6. Hypoglycemia

Hyperinsulinism

Fatty Acid Oxidation Defects

Gluconeogenesis Defects

7. Diabetes

8. Failure to Thrive

9. Obesity

DISORDERS OF THYROID

10. Hypothyroidism

11. Hyperthyroidism

12. Thyroid nodules

DISORDERS OF GROWTH

13. Short Stature

14. Tall Stature

Homocystinuria

Marfans

Gigantism

15. Misc. Syndromes

DISORDERS OF THE ADRENALS

16. Addisons

17. CAH

18. Cushing

DISORDERS OF PUBERTY

19. Precocious Puberty

20. Delayed Puberty

DISORDERS OF REPRODUCTIVE SYSTEM

21. Sex Differentiation

22. Ovarian Failure

Turners, etc

23. Testicular Failure

Kleinefelters, etc

DISORDERS OF CALCIUM AND PHOSPHATE METABOLISM

24. Hypoparathyroidism

25. Hyperparathyroidism

26. Rickets

DISORDERS OF WATER AND ELECTROLYTE METABOLISM

27. Diabetes Insipidus

28. Nephrogenic Diabetes

29. Hypokalemia/Hyperkalemia

30. Hyponatremia/Hypernatremia

31. Misc. Disorders

DISORDERS OF ACID BASE METABOLISM

32. Metabolic Acidosis

DKA

Organic Acidurias (Maple Syrup,

Isovaleric)

Misc Endocrine/Metab disorders

33. Metabolic Alkalosis

Misc Endocrine/Metab disorders

Urea Cycle Defects

MITOCHONDRIAL AND PEROXISOMAL DISORDERS

34. MERRF

35. MELAS

36. Zellweger

MULTIPLE ENDOCRINE NEOPLASIA SYNDROMES

37. MEN 1

38. MEN 2

39. Pheochromocytoma

INTERVENTIONS CAUSING ENDOCRINE MANIFESTATIONS

40. Endocrine consequences of curing childhood cancers (radiotherapy, chemotherapy)

41. Surgical

42. Medications