Congenital Adrenal Hyperplasia: A Comprehensive Guide, Second Edition provides a fully-illustrated edition that outlines the basics of CAH and its interrelation with hormones and bodily function, including updated content on the latest clinical research. A new chapter dedicated to gene therapy covers principles, current status, the latest research developments, and potential treatments for congenital adrenal hyperplasia. In addition, this new release updates patient profiles due to several new clinical studies in CAH for improved condition management, with practical information on how to deal with emergencies, medic alert emergency kits, emergency injection needles, handling illness, surgery, and more.
In addition, new assays are incorporated for the analysis of pituitary and adrenal hormones for the determination of the disease. This new edition continues to be a vital reference to pediatric endocrinologists as well as primary care providers to help affected patients with an updated model of care and appropriate treatment. Patients and family members will continue to benefit from the new trend-forward information presented and will be empowered to approach their health care providers with the expectation of receiving individualized care and treatment of the disorder.
In addition, new assays are incorporated for the analysis of pituitary and adrenal hormones for the determination of the disease. This new edition continues to be a vital reference to pediatric endocrinologists as well as primary care providers to help affected patients with an updated model of care and appropriate treatment. Patients and family members will continue to benefit from the new trend-forward information presented and will be empowered to approach their health care providers with the expectation of receiving individualized care and treatment of the disorder.
Table of Contents
1. Physiology of the Adrenal Gland: 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 and Puberty
7. Biochemical Tests Used for Diagnosis
8. Monitoring Outcomes
9. Problems with Growth and Puberty
10. Weight, Diabetes, and cardiovascular disease
11. Bone Density and Osteoporosis
12. Fertility
13. Mood and Sleep
14. Abdominal, Skin and Other Problems
15. History of Steroid Development
16. Glucocorticoid Treatment
17. Glucose and Cortisol
18. Hydrocortisone
19. Forms of Hydrocortisone
20. Other Glucocorticoids and New Therapies
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 role
26. The Pump Method for Achieving a Normal Circadian Cortisol Replacement
27. Stress Dosing for Sick Days, Surgery, Exams and Exercise
28. Salt and water balance and 9 Alpha-Fludrocortisone
29. Practical Aspects of Living with Congenital Adrenal Hyperplasia
30. Gene Therapy A potential treatment for Congenital Adrenal Hyperplasia
Authors
Peter C. Hindmarsh Professor of Pediatric Endocrinology and Divisional Clinical Director for Pediatrics and Adolescents, UCLH, Developmental Endocrinology Research Group, University College London, UK.Peter Hindmarsh is a Professor of Pediatric Endocrinology in London, United Kingdom. He has published extensively on cortisol physiology and pharmacology and how these impact on replacement therapies for adrenal insufficiency. He is interested in better delivery of treatment in a more physiological manner as exemplified by the delivery of hydrocortisone using pump therapy to mimic the circadian rhythm.
Kathy Geertsma Chair CAHISUS Support and Information Group, London, UK. As the parent of a young adult with Salt Wasting Congenital Adrenal Hyperplasia, Kathy Geertsma became chair of a Congenital Adrenal Hyperplasia Patient, Parent and Carer Information and Support Group known as CAHISUS. She has extensive contact with patients, parents, and carers from all over the world who struggle with confirming the cause for adrenal insufficiency and getting access to proper treatment. As a result, she offers a unique perspective about how practitioners can better serve the needs of their patients.
