Section One: Congenital adrenal hyperplasia—introduction
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
Introduction
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
Introduction
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