Congenital Adrenal Hyperplasia
A Comprehensive Guide
- 2nd Edition - February 1, 2027
- Latest edition
- Authors: Peter C. Hindmarsh, Kathy Geertsma
- Language: English
Congenital Adrenal Hyperplasia: A Comprehensive Guide, Second Edition provides a fully-illustrated edition that outlines the basics of CAH and its interrelation with hormon… Read more
Description
Description
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.
Key features
Key features
- Provides new information on steroid biosynthesis, the biochemical structure of steroids, and steroidal transportation in blood with cortisol, including steroid hormone receptors
- Includes the latest advances in personalized medicine, including hydrocortisone pump therapy and gene therapy
- Presents the latest information on conditions such as CAH-X and how to manage it
- Includes a new chapter on gene therapy that discusses what gene therapy is, what types there are, and why Congenital Adrenal Hyperplasia is a good candidate
Readership
Readership
Fellows, residents, and practitioners in endocrinology, internal medicine, primary care; biomedical researchers of endocrine disease and rare genetic diseases across biomedical disciplines, along with educated patients and parents
Table of contents
Table of contents
Preface
Personal Story
Section 1 CONGENITAL ADRENAL HYPERPLASIA – PHYSIOLOGY, GENETICS AND BIOCHEMICAL TESTS
Section 1
1. Biochemistry and Physiology of the Adrenal Gland
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
Part 1: Growth
Part 2: Puberty
7. Biochemical Tests Used for Diagnosis and Monitoring
SECTION 2 WHEN THINGS GO WRONG IN CONGENITAL ADRENAL HYPERPLASIA
Section 2
8. Monitoring Long Term Outcomes
9. Problems with Growth and Puberty
Part 1: Growth
Part 2: Puberty
10. The Interaction Between Glucose, Cortisol, Insulin, Lipids and Blood Pressure
Part 1: Glucose, Cortisol and Insulin
Part 2: Weight gain and obesity
Part 3: Cholesterol and lipids
Part 4: Blood Pressure and The Heart
11. Bone Density and Osteoporosis
12. Fertility
13. The Brain – Sleep, Mood, Memory and Cognition
14. Mouth, Gastrointestinal, Skin, Wound Healing, Hair, Voice Changes, Muscle, Tendons and the Eye
Part 1: The mouth
Part 2: Gastrointestinal problems
Part 3: Skin
Part 4: Immune modulation and wound healing
Part 5: Hair and voice changes
Part 6: Muscles and tendons
Part 7: The eye
Section 3 TREATMENT FOR CONGENITAL ADRENAL HYPERPLASIA
Section 3
15. History of Steroid Development
16. Hydrocortisone
17. Oral Hydrocortisone Formulations
18. Other Glucocorticoid Treatments for CAH – Prednisolone, Dexamethasone
19. Other Medications Used to Manage Congenital Adrenal Hyperplasia: Anti-Androgens, Corticotropin-Releasing Hormone Antagonists, and Adrenalectomy
20. Points to Consider in Devising Glucocorticoid Treatment Regimens
21. Dosing and the Circadian Rhythm
Part 1: The Circadian Rhythm of Cortisol
Part 2: Cortisol Stacking
Part 3: Missing A Dose of Hydrocortisone (Examples and Guidance on What To Do)
22. Cortisol and 17 Hydroxyprogesterone
23. Monitoring Hydrocortisone Therapy
24. Using Profiles to Assess Cortisol Replacement
25. Other hormones and their role
26. The Pump Method for Achieving a Normal Circadian Cortisol Replacement
27. Stress Dosing for Sick Days, Surgery, Dental Surgery, Exams and Exercise
28. Salt and water balance and 9 Alpha-Fludrocortisone
29. Practical Aspects of Dealing with the Day to Day Management of CAH
30. Gene Therapy A potential treatment for Congenital Adrenal Hyperplasia
31. Thinking Through Blood Results– A QUIZ
Personal Story
Section 1 CONGENITAL ADRENAL HYPERPLASIA – PHYSIOLOGY, GENETICS AND BIOCHEMICAL TESTS
Section 1
1. Biochemistry and Physiology of the Adrenal Gland
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
Part 1: Growth
Part 2: Puberty
7. Biochemical Tests Used for Diagnosis and Monitoring
SECTION 2 WHEN THINGS GO WRONG IN CONGENITAL ADRENAL HYPERPLASIA
Section 2
8. Monitoring Long Term Outcomes
9. Problems with Growth and Puberty
Part 1: Growth
Part 2: Puberty
10. The Interaction Between Glucose, Cortisol, Insulin, Lipids and Blood Pressure
Part 1: Glucose, Cortisol and Insulin
Part 2: Weight gain and obesity
Part 3: Cholesterol and lipids
Part 4: Blood Pressure and The Heart
11. Bone Density and Osteoporosis
12. Fertility
13. The Brain – Sleep, Mood, Memory and Cognition
14. Mouth, Gastrointestinal, Skin, Wound Healing, Hair, Voice Changes, Muscle, Tendons and the Eye
Part 1: The mouth
Part 2: Gastrointestinal problems
Part 3: Skin
Part 4: Immune modulation and wound healing
Part 5: Hair and voice changes
Part 6: Muscles and tendons
Part 7: The eye
Section 3 TREATMENT FOR CONGENITAL ADRENAL HYPERPLASIA
Section 3
15. History of Steroid Development
16. Hydrocortisone
17. Oral Hydrocortisone Formulations
18. Other Glucocorticoid Treatments for CAH – Prednisolone, Dexamethasone
19. Other Medications Used to Manage Congenital Adrenal Hyperplasia: Anti-Androgens, Corticotropin-Releasing Hormone Antagonists, and Adrenalectomy
20. Points to Consider in Devising Glucocorticoid Treatment Regimens
21. Dosing and the Circadian Rhythm
Part 1: The Circadian Rhythm of Cortisol
Part 2: Cortisol Stacking
Part 3: Missing A Dose of Hydrocortisone (Examples and Guidance on What To Do)
22. Cortisol and 17 Hydroxyprogesterone
23. Monitoring Hydrocortisone Therapy
24. Using Profiles to Assess Cortisol Replacement
25. Other hormones and their role
26. The Pump Method for Achieving a Normal Circadian Cortisol Replacement
27. Stress Dosing for Sick Days, Surgery, Dental Surgery, Exams and Exercise
28. Salt and water balance and 9 Alpha-Fludrocortisone
29. Practical Aspects of Dealing with the Day to Day Management of CAH
30. Gene Therapy A potential treatment for Congenital Adrenal Hyperplasia
31. Thinking Through Blood Results– A QUIZ
Product details
Product details
- Edition: 2
- Latest edition
- Published: February 1, 2027
- Language: English
About the authors
About the authors
PH
Peter C. Hindmarsh
Peter Hindmarsh is Emeritus Professor of Paediatric Endocrinology at University College London. He retired from clinical practice in 2024. His research interests continue in the physiology and pharmacology of drugs used to manage Congenital Adrenal Hyperplasia and novel ways of delivering hydrocortisone using pump therapy to mimic the cortisol circadian rhythm. With this innovate method his hydrocortisone pump delivery formula individualises infusion rates to successfully replicate the circadian rhythm and is particularly suited for individuals who have problems with fast clearance and/or gut issues.
Affiliations and expertise
Professor of Pediatric Endocrinology and Divisional Clinical Director for Pediatrics and Adolescents, UCLH, Developmental Endocrinology Research Group, University College London, UKKG
Kathy Geertsma
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.
Affiliations and expertise
Chair CAHISUS Support and Information Group, London, UK