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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.
- 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
Section One: Congenital adrenal hyperplasia—introduction
Chapter 1: Physiology of the Adrenal Glands: How Does It Work?
- 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
Chapter 2: How Males and Females Develop
- Genes making males or females
- External appearances—the role of male hormones
- Assessing these changes
Chapter 3: Genetics of Congenital Adrenal Hyperplasia
- Understanding the genetics of congenital adrenal hyperplasia
- Antenatal diagnosis and treatment
Chapter 4: Common Forms of Congenital Adrenal Hyperplasia
- Classical CAH - 21-Hydroxylase deficiency or CYP21 deficiency
- 11-Hydroxylase or CYP11B1 deficiency
Chapter 5: Other Blocks in the Pathway Causing Congenital Adrenal Hyperplasia
- 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
- The process
- Body mass index
- Bone age
Chapter 7: Puberty
- 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
Chapter 8: Biochemical Tests Used for Diagnosis
- 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
- Annual review
- Short term
- Medium term
- Long term
Chapter 10: Growth
- 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
- How aromatase inhibitors work
- Delayed puberty
- What causes gynaecomastia?
- How does this relate to congenital adrenal hyperplasia?
- Treatment for gynaecomastia
Chapter 12: When Things Go Wrong—Weight, Diabetes and Hypertension
- What to do if problems arise
- Glucose and insulin metabolism
- Blood pressure
Chapter 13: When Things Go Wrong—Bone Density and Osteoporosis
- What happens?
- How we check bone density?
- What can be done to prevent osteoporosis?
Chapter 14: Fertility
- 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
- What we can do about this?
- Mood alterations
Chapter 16: Abdominal, Skin and Other Problems
- Stomach problems
- Skin problems
- Striae (stretch marks)
- Thin skin and bruising
- Immune modulation
- Hair and voice changes
- Eyes and brain
- Bone death
- The heart
Section Three: Treatment for congenital adrenal hyperplasia
Chapter 17: History of Steroid Development
- Dosing and growth
- 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
- How do glucocorticoids work?
- Cortisol binding globulin
- How do the glucocorticoids compare?
Chapter 19: Glucose and Cortisol
- 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?
Chapter 20: Hydrocortisone
- What is hydrocortisone?
- Oral hydrocortisone
- How fast is the hydrocortisone removed from the body what is half-life?
- Half-life of hydrocortisone
- Medication can also alter the half-life and clearance
- Calculating doses
- Side effects
Chapter 21: Dosing and the Circadian Rhythm
- Dosing with hydrocortisone
- The body’s normal production of cortisol
- The distribution of cortisol and importance for dosing
Chapter 22: Cortisol and 17-Hydroxyprogesterone
- Factors influencing 17-hydroxyprogesterone
- Relationship between cortisol and 17-hydroxyprogesterone
Chapter 23: Using Profiles to Assess Cortisol Replacement
- 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
Chapter 24: Monitoring Hydrocortisone Therapy
- 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?
Chapter 25: Other Hormones and Their Roles
- Adrenocorticotropin hormone
- Sex steroids—estradiol and testosterone
- 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
- Missing a dose when taking hydrocortisone 3 times a day
- Missing doses when taking hydrocortisone 4 times per day
- 3 Times a day dosing
- 4 Times a day dosing
Chapter 27: Intravenous, Intramuscular and Other Forms of Hydrocortisone
- Intravenous and intramuscular hydrocortisone
- How do cortisol levels compare with the different preparations?
- Hydrocortisone suppositories
- Buccal hydrocortisone
Chapter 28: The Pump Method for Achieving a Normal Circadian Cortisol Replacement
- Principle of the hydrocortisone pump
- What happens to other hormones?
- What do we use hydrocortisone pump therapy for?
- Setting up the pump
- Results of pump therapy
- Pumps and inserters
- General information
Chapter 29: Stress Dosing for Sick Days, Surgery, Exams and Exercise
- What happens during illness, trauma and surgery
- Increased dosing
- Managing sickness at home
- What to do with trauma accidents
- Surgery in patients receiving glucocorticoids
- Getting your family doctor involved
Chapter 30: Practical Information Emergency Kit and School Information
- 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
Chapter 31: Other Treatments for Congenital Adrenal Hyperplasia—Prednisolone, Dexamethasone and Adrenalectomy
- Prednisone and prednisolone
- Contra-indications and drug interactions of prednisolone and dexamethasone
Chapter 32: Fludrocortisone 9 Alpha-Fludrocortisone
- 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
Chapter 33: Travel and Time Zones
- Things to remember when you travel
- Important information
- Dealing with diarrhoea
- On holiday
- Time zones
- Hydrocortisone medication changes during travel
Chapter 34: Thinking Through Blood Results–A Quiz
- Single blood tests and blood spots for 17-hydroxyprogesterone
- Another example
Chapter 35: Discussing the Emotional Aspects of Living With Congenital Adrenal Hyperplasia
- Early years ages 0–5 years
- Childhood ages 6–12 years
- Interaction of congenital adrenal hyperplasia with normal development
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
- 5th May 2017
- Academic Press
- Paperback ISBN:
- eBook ISBN:
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.
Professor of Pediatric Endocrinology and Divisional Clinical Director for Pediatrics and Adolescents, UCLH, Developmental Endocrinology Research Group, University College London, UK
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.
Chair CAHISUS Support and Information Group, London, UK
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