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Congenital Adrenal Hyperplasia


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Comprehensive resource for the diagnosis and treatment of congenital adrenal hyperplasia, a genetic endocrine disease

Table of Contents

Section One: Congenital adrenal hyperplasia-introduction 1. Physiology of the Adrenal Glands: How Does It Work? 2. How Males and Females Develop 3. Genetics of Congenital Adrenal Hyperplasia 4. Common Forms of Congenital Adrenal Hyperplasia 5. Other Blocks in the Pathway Causing Congenital Adrenal Hyperplasia 6. Growth 7. Puberty 8. Biochemical Tests Used for Diagnosis Section Two: When things go wrong in congenital adrenal hyperplasia 9. Monitoring Long Term Outcomes 10. Growth 11. When Things Go Wrong With Puberty 12. When Things Go Wrong-Weight, Diabetes and Hypertension 13. When Things Go Wrong-Bone Density and Osteoporosis 14. Fertility 15. Sleep and Mood Alterations 16. Abdominal, Skin and Other Problems Section Three: Treatment for congenital adrenal hyperplasia 17. History of Steroid Development 18. Glucocorticoid Treatment 19. Glucose and Cortisol 20. Hydrocortisone 21. Dosing and the Circadian Rhythm 22. Cortisol and 17-Hydroxyprogesterone 23. Using Profiles to Assess Cortisol Replacement 24. Monitoring Hydrocortisone Therapy 25. Other Hormones and Their Roles 26. Missing a Dose of Hydrocortisone 27. Intravenous, Intramuscular and Other Forms of Hydrocortisone 28. The Pump Method for Achieving a Normal Circadian Cortisol Replacement 29. Stress Dosing for Sick Days, Surgery, Exams and Exercise 30. Practical Information Emergency Kit and School Information 31. Other Treatments for Congenital Adrenal Hyperplasia-Prednisolone, Dexamethasone and Adrenalectomy 32. Fludrocortisone 9 Alpha-Fludrocortisone 33. Travel and Time Zones 34. Thinking Through Blood Results-A Quiz 35. Discussing the Emotional Aspects of Living With Congenital Adrenal Hyperplasia Appendix 1. Converting System International (SI) Blood Measures Into North American Values or Conventional Units Appendix 2. List of Abbreviations

About the Author

Peter Hindmarsh is Professor of Pediatric Endocrinology at University College London and Consultant in Pediatric Endocrinology and Diabetes at University College London Hospitals and Great Ormond Street Hospital for Children. Currently, he is applying Chronic Care Models to the delivery of care for patients with Congenital Adrenal Hyperplasia. His research interests are in the physiology and pharmacology of drugs used to manage Congenital Adrenal Hyperplasia and novel ways of delivery Hydrocortisone using pump therapy to mimic the circadian rhythm. As the parent of a young adult with Salt Wasting Congenital Adrenal Hyperplasia, Kathy Geertsma became Chair of the Congenital Adrenal Hyperplasia Parent and Support Group. She has extensive contact with parents and patients from all over the world who struggle with confirming a CAH diagnosis and getting proper treatment. As a result, she offers a unique perspective about how practitioners can better serve the needs of their patient population.

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