Pediatric Endocrinology and Inborn Errors of Metabolism

Synopsis
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
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



Marfan’s


Gigantism



15. Misc. Syndromes



DISORDERS OF THE ADRENALS

16. Addison’s


17. CAH


18. Cushing





DISORDERS OF PUBERTY

19. Precocious Puberty


20.Delayed Puberty



DISORDERS OF REPRODUCTIVE SYSTEM

21. Sex Differentiation


22. Ovarian Failure



Turner’s, etc



23. Testicular Failure



Kleinefelter’s, 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