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Congenital Adrenal Hyperplasia

A Comprehensive Guide

  • 2nd Edition - November 1, 2026
  • 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

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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.

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

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

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

Product details

  • Edition: 2
  • Latest edition
  • Published: November 1, 2026
  • Language: English

About the authors

PH

Peter C. Hindmarsh

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.

Affiliations and expertise
Professor of Pediatric Endocrinology and Divisional Clinical Director for Pediatrics and Adolescents, UCLH, Developmental Endocrinology Research Group, University College London, UK

KG

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