Comprehensive resource for the diagnosis and treatment of congenital adrenal hyperplasia, a genetic endocrine disease
Section One: Congenital adrenal hyperplasia—introduction1.
Physiology of the Adrenal Glands: How Does It Work?2. How Males and
Females Develop3. Genetics of Congenital Adrenal Hyperplasia4.
Common Forms of Congenital Adrenal Hyperplasia5. Other Blocks in
the Pathway Causing Congenital Adrenal Hyperplasia6. Growth7.
Puberty8. Biochemical Tests Used for Diagnosis
Section Two: When things go wrong in congenital adrenal
hyperplasia9. Monitoring Long Term Outcomes10. Growth11. When
Things Go Wrong With Puberty12. When Things Go Wrong—Weight,
Diabetes and Hypertension13. When Things Go Wrong—Bone Density and
Osteoporosis14. Fertility15. Sleep and Mood Alterations16.
Abdominal, Skin and Other Problems
Section Three: Treatment for congenital adrenal hyperplasia17.
History of Steroid Development18. Glucocorticoid Treatment19.
Glucose and Cortisol20. Hydrocortisone21. Dosing and the Circadian
Rhythm22. Cortisol and 17-Hydroxyprogesterone23. Using Profiles to
Assess Cortisol Replacement24. Monitoring Hydrocortisone Therapy25.
Other Hormones and Their Roles26. Missing a Dose of
Hydrocortisone27. Intravenous, Intramuscular and Other Forms of
Hydrocortisone28. The Pump Method for Achieving a Normal Circadian
Cortisol Replacement29. Stress Dosing for Sick Days, Surgery, Exams
and Exercise30. Practical Information Emergency Kit and School
Information31. Other Treatments for Congenital Adrenal
Hyperplasia—Prednisolone, Dexamethasone and Adrenalectomy32.
Fludrocortisone 9 Alpha-Fludrocortisone33. Travel and Time Zones34.
Thinking Through Blood Results–A Quiz35. Discussing the Emotional
Aspects of Living With Congenital Adrenal HyperplasiaAppendix 1.
Converting System International (SI) Blood Measures Into North
American Values or Conventional UnitsAppendix 2. List of
Abbreviations
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.
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.
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