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Congenital Adrenal Hyperplasia - 1st Edition - ISBN: 9780128114834, 9780128114841

Congenital Adrenal Hyperplasia

1st Edition

A Comprehensive Guide

Authors: Peter C Hindmarsh Kathy Geertsma
Paperback ISBN: 9780128114834
eBook ISBN: 9780128114841
Imprint: Academic Press
Published Date: 19th April 2017
Page Count: 504
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Congenital Adrenal Hyperplasia: A Comprehensive Guide addresses how hydrocortisone works, what can go wrong, and how to correct it, also explaining why the timing of doses and measurement of cortisol from a dose is extremely important.

The book provides an in-depth analysis of this disorder for pediatric endocrinologists and primary care providers, allowing them to help patients with an updated model of care and appropriate treatment.

Patients and family members will benefit from the trend-forward information that will empower them to approach their healthcare providers with the expectation of receiving individualized care and treatment for this disorder.

Key Features

  • Outlines the basics of congenital adrenal hyperplasia and its interrelation with hormones and bodily functions
  • Presents the known cognitive and emotional aspects of the disease
  • Reviews multidisciplinary management as well as post-treatment management of the disease


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

Section One: Congenital adrenal hyperplasia—introduction


    Chapter 1: Physiology of the Adrenal Glands: How Does It Work?

    • Abstract
    • Glossary
    • Introduction
    • The hypothalamus and pituitary gland
    • What are steroids?
    • Regulation of cortisol release
    • The circadian rhythm of cortisol—the natural production of cortisol
    • Renin-angiotensin system
    • Adrenal androgens
    • The backdoor pathway for adrenal androgen formation
    • Conclusions

    Chapter 2: How Males and Females Develop

    • Abstract
    • Glossary
    • General
    • Genes making males or females
    • External appearances—the role of male hormones
    • Assessing these changes

    Chapter 3: Genetics of Congenital Adrenal Hyperplasia

    • Abstract
    • Glossary
    • General
    • Understanding the genetics of congenital adrenal hyperplasia
    • Antenatal diagnosis and treatment

    Chapter 4: Common Forms of Congenital Adrenal Hyperplasia

    • Abstract
    • Glossary
    • General
    • Classical CAH - 21-Hydroxylase deficiency or CYP21 deficiency
    • 11-Hydroxylase or CYP11B1 deficiency

    Chapter 5: Other Blocks in the Pathway Causing Congenital Adrenal Hyperplasia

    • Abstract
    • Glossary
    • General
    • 17α-hydroxylase/17, 20-lyase (P450C17) or CYP17 deficiency
    • 3Beta-hydroxysteroid dehydrogenase type-2 (3β-HSD 2) deficiency
    • Congenital lipoid adrenal hyperplasia (lipoid CAH) (StAR deficiency)
    • P450 oxidoreductase deficiency

    Chapter 6: Growth

    • Abstract
    • Glossary
    • General
    • The process
    • Growth
    • Weight
    • Body mass index
    • Bone age
    • Conclusions

    Chapter 7: Puberty

    • Abstract
    • Glossary
    • General
    • Hormonal control of puberty
    • How we measure the stages of puberty
    • Sex steroid production
    • Order of puberty
    • What happens in CAH when the adrenals make too many adrenal androgens
    • Symptoms and signs of precocious puberty
    • Conclusions

    Chapter 8: Biochemical Tests Used for Diagnosis

    • Abstract
    • Glossary
    • General
    • Blood measurements
    • Urine samples
    • Saliva sampling
    • Stimulation tests
    • Genetic confirmation of the diagnosis
    • Tests to work out absorption and clearance
    • Testing for early puberty
    • Testing the feedback from adrenal to pituitary
    • Monitoring therapy
    • Electrolyte measurement

    Section Two: When things go wrong in congenital adrenal hyperplasia


      Chapter 9: Monitoring Long Term Outcomes

      • Abstract
      • Glossary
      • Annual review
      • Short term
      • Medium term
      • Long term

      Chapter 10: Growth

      • Abstract
      • Glossary
      • General
      • Over treatment
      • Under treatment
      • How bone age is useful in monitoring growth
      • Non-classical CAH (NCCAH) and advanced bone age

      Chapter 11: When Things Go Wrong With Puberty

      • Abstract
      • Glossary
      • General
      • How aromatase inhibitors work
      • Delayed puberty
      • Gynaecomastia
      • What causes gynaecomastia?
      • How does this relate to congenital adrenal hyperplasia?
      • Treatment for gynaecomastia

      Chapter 12: When Things Go Wrong—Weight, Diabetes and Hypertension

      • Abstract
      • Glossary
      • General
      • What to do if problems arise
      • Glucose and insulin metabolism
      • Blood pressure

      Chapter 13: When Things Go Wrong—Bone Density and Osteoporosis

      • Abstract
      • Glossary
      • General
      • What happens?
      • How we check bone density?
      • What can be done to prevent osteoporosis?

      Chapter 14: Fertility

      • Abstract
      • Glossary
      • General
      • Fertility in females
      • Polycystic ovary
      • Fertility in males
      • Adrenal rests (testicular adrenal rest tissue-tart)
      • Pregnancy in a person with congenital adrenal hyperplasia

      Chapter 15: Sleep and Mood Alterations

      • Abstract
      • Glossary
      • Sleep
      • What we can do about this?
      • Mood alterations
      • Conclusions

      Chapter 16: Abdominal, Skin and Other Problems

      • Abstract
      • Glossary
      • Stomach problems
      • Constipation
      • Skin problems
      • Hyperpigmentation
      • Striae (stretch marks)
      • Thin skin and bruising
      • Muscles
      • Immune modulation
      • Hair and voice changes
      • Eyes and brain
      • Bone death
      • The heart
      • Conclusions

      Section Three: Treatment for congenital adrenal hyperplasia


        Chapter 17: History of Steroid Development

        • Abstract
        • Glossary
        • General
        • Dosing and growth
        • Hydrocortisone
        • Frequency of administration of hydrocortisone
        • 24 hour profiles and dosage change
        • Search for better methods of delivering cortisol
        • Prednisolone and dexamethasone

        Chapter 18: Glucocorticoid Treatment

        • Abstract
        • Glossary
        • General
        • How do glucocorticoids work?
        • Cortisol binding globulin
        • How do the glucocorticoids compare?

        Chapter 19: Glucose and Cortisol

        • Abstract
        • Glossary
        • General
        • Glucose and cortisol interaction
        • What happens then in congenital adrenal hyperplasia?
        • Glucose and exercise
        • More at 4 a.m.
        • What happens in the body when blood glucose falls?
        • Blood glucose measurement
        • What to do if blood glucose is low?
        • Conclusions

        Chapter 20: Hydrocortisone

        • Abstract
        • Glossary
        • What is hydrocortisone?
        • Oral hydrocortisone
        • How fast is the hydrocortisone removed from the body what is half-life?
        • Clearance
        • Half-life of hydrocortisone
        • Medication can also alter the half-life and clearance
        • Calculating doses
        • Side effects
        • Conclusions

        Chapter 21: Dosing and the Circadian Rhythm

        • Abstract
        • Glossary
        • Dosing with hydrocortisone
        • The body’s normal production of cortisol
        • The distribution of cortisol and importance for dosing
        • Conclusions

        Chapter 22: Cortisol and 17-Hydroxyprogesterone

        • Abstract
        • Glossary
        • General
        • 17-Hydroxyprogesterone
        • Factors influencing 17-hydroxyprogesterone
        • Relationship between cortisol and 17-hydroxyprogesterone
        • Conclusions

        Chapter 23: Using Profiles to Assess Cortisol Replacement

        • Abstract
        • Glossary
        • General
        • What we need to consider
        • 24 hour profile—2 times per day dosing with hydrocortisone
        • 24 hour profile—3 times per day dosing with hydrocortisone
        • 24 hour profile—4 times per day dosing with hydrocortisone
        • A 17OHP within the normal range does not indicate overtreatment
        • Critical nature of dose timing
        • Variation in dose during the 24 hour period
        • Reverse circadian dosing
        • Conclusions

        Chapter 24: Monitoring Hydrocortisone Therapy

        • Abstract
        • Glossary
        • General
        • Do I need to have blood tests and how often should these be taken?
        • Single blood test
        • Blood spots (17OHP measurements done at home pre dose)
        • Why looking at the cortisol levels over the full 24 hour period is important
        • Day curves
        • So how do you make a profile?
        • Can we use a single measure like androstenedione or testosterone?
        • Conclusions

        Chapter 25: Other Hormones and Their Roles

        • Abstract
        • Glossary
        • General
        • Adrenocorticotropin hormone
        • Sex steroids—estradiol and testosterone
        • Androstenedione
        • Luteinising and follicle-stimulating hormones
        • Follicle-stimulating hormone
        • Growth hormone
        • Blood glucose
        • Other important measurements undertaken during 24 hour profiles

        Chapter 26: Missing a Dose of Hydrocortisone

        • Abstract
        • Glossary
        • General
        • Cortisol
        • Missing a dose when taking hydrocortisone 3 times a day
        • Missing doses when taking hydrocortisone 4 times per day
        • Summary
        • 3 Times a day dosing
        • 4 Times a day dosing
        • Fludrocortisone
        • Conclusions

        Chapter 27: Intravenous, Intramuscular and Other Forms of Hydrocortisone

        • Abstract
        • Glossary
        • General
        • Intravenous and intramuscular hydrocortisone
        • How do cortisol levels compare with the different preparations?
        • Hydrocortisone suppositories
        • Buccal hydrocortisone
        • Conclusions

        Chapter 28: The Pump Method for Achieving a Normal Circadian Cortisol Replacement

        • Abstract
        • Glossary
        • General
        • Principle of the hydrocortisone pump
        • History
        • What happens to other hormones?
        • What do we use hydrocortisone pump therapy for?
        • Setting up the pump
        • Results of pump therapy
        • Pumps and inserters
        • Conclusions
        • General information

        Chapter 29: Stress Dosing for Sick Days, Surgery, Exams and Exercise

        • Abstract
        • Glossary
        • General
        • Stress
        • What happens during illness, trauma and surgery
        • Increased dosing
        • Managing sickness at home
        • Illness
        • What to do with trauma accidents
        • Surgery in patients receiving glucocorticoids
        • Exams
        • Vaccinations
        • Getting your family doctor involved
        • Conclusions

        Chapter 30: Practical Information Emergency Kit and School Information

        • Abstract
        • Glossary
        • Medic alert
        • Emergency kit
        • Emergency injection
        • Needle information
        • Information for school and nursery care
        • Medical management plan for schools or nursery care
        • Illness at school or nursery
        • Serious injuries
        • General illnesses
        • Vomiting

        Chapter 31: Other Treatments for Congenital Adrenal Hyperplasia—Prednisolone, Dexamethasone and Adrenalectomy

        • Abstract
        • Glossary
        • General
        • Prednisone and prednisolone
        • Dexamethasone
        • Contra-indications and drug interactions of prednisolone and dexamethasone
        • Adrenalectomy
        • Conclusions

        Chapter 32: Fludrocortisone 9 Alpha-Fludrocortisone

        • Abstract
        • Glossary
        • What is fludrocortisone?
        • How does fludrocortisone retain salt when it is like cortisol?
        • If fludrocortisone has a prolonged cortisol like action, can it be used instead of hydrocortisone?
        • Fludrocortisone and salt balance
        • What is the dose of fludrocortisone that is needed?
        • How do we monitor fludrocortisone replacement?
        • Side effects, contraindications and drug interactions
        • Do I need to double dose with fludrocortisone when unwell
        • Conclusions

        Chapter 33: Travel and Time Zones

        • Abstract
        • Glossary
        • General
        • Things to remember when you travel
        • Fludrocortisone
        • Important information
        • Dealing with diarrhoea
        • On holiday
        • Time zones
        • Hydrocortisone medication changes during travel

        Chapter 34: Thinking Through Blood Results–A Quiz

        • Abstract
        • Glossary
        • General
        • Single blood tests and blood spots for 17-hydroxyprogesterone
        • Another example
        • Conclusions

        Chapter 35: Discussing the Emotional Aspects of Living With Congenital Adrenal Hyperplasia

        • Abstract
        • Glossary
        • General
        • Early years ages 0–5 years
        • Childhood ages 6–12 years
        • Adolescence
        • Interaction of congenital adrenal hyperplasia with normal development
        • Conclusions

        Appendix 1: Converting System International (SI) Blood Measures Into North American Values or Conventional Units

        Appendix 2: List of Abbreviations


        No. of pages:
        © Academic Press 2017
        19th April 2017
        Academic Press
        Paperback ISBN:
        eBook ISBN:

        About the Authors

        Peter C Hindmarsh

        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.

        Affiliations and Expertise

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

        Kathy Geertsma

        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.

        Affiliations and Expertise

        Chair CAHISUS Support and Information Group, London, UK

        Ratings and Reviews