Chapter
Section One - Congenital Adrenal Hyperplasia—Introduction
Chapter 1 - Physiology of the Adrenal Glands: How Does It Work?
The hypothalamus and pituitary gland
Regulation of cortisol release
The circadian rhythm of cortisol—the natural production of cortisol
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
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
Salt-wasting Congenital Adrenal Hyperplasia (SWCAH)
Classical CAH—Salt-wasting Congenital Adrenal Hyperplasia (SWCAH): Summary
Simple Virilising Congenital Adreanl Hyperplasia (SVCAH)
Simple Virilising Congenital Adrenal Hyperplasia: Summary
Non-Classical Congenital Adrenal Hyperplasia (NCCAH) also known as Late-Onset Congenital Adrenal Hyperplasia (LOCAH)
Non-Classical Congenital Adrenal Hyperplasia: Summary
11-Hydroxylase or CYP11B1 deficiency
11-Hydroxylase (CYP11B1) Deficiency: Classical summary
11-Hydroxylase (CYP11B1) Deficiency: Non-classical summary
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
3Beta-hydroxysteroid dehydrogenase type-2: Summary
Congenital lipoid adrenal hyperplasia (lipoid CAH) (StAR deficiency)
P450 oxidoreductase deficiency
P450 Oxidoreductase Deficiency: Summary
How to estimate genetic height potential
When should the first bone age X-ray be taken?
Hormonal control of puberty
How we measure the stages 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
Genetic confirmation of the diagnosis
Tests to work out absorption and clearance
Testing for early puberty
Testing the feedback from adrenal to pituitary
Testing hydrocortisone replacement
Testing the mineralocorticoid axis
Section Two - When Things Go Wrong in Congenital Adrenal Hyperplasia
Chapter 9 - Monitoring Long Term Outcomes
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
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
What to do about high glucose
What to do about low blood glucose
What to do about high blood pressure
What to do about low blood pressure
Chapter 13 - When Things Go Wrong—Bone Density and Osteoporosis
How we check bone density?
What can be done to prevent osteoporosis?
Treatment for established osteoporosis
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?
Chapter 16 - Abdominal, Skin and Other Problems
Section Three - Treatment for Congenital Adrenal Hyperplasia
Chapter 17 - History of Steroid Development
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?
What happens in the body when blood glucose falls?
Blood glucose measurement
What to do if blood glucose is low?
Chapter 20 - Hydrocortisone
How much of an oral dose gets into the body?
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
Chapter 21 - Dosing and the Circadian Rhythm
Dosing with hydrocortisone
Why is hydrocortisone used and not the longer acting steroids?
The body’s normal production of cortisol
The distribution of cortisol and importance for dosing
Cortisol stacking—why dose timing is important?
Chapter 22 - Cortisol and 17-Hydroxyprogesterone
Factors influencing 17-hydroxyprogesterone
Relationship between cortisol and 17-hydroxyprogesterone
Chapter 23 - Using Profiles to Assess Cortisol Replacement
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
Chapter 24 - Monitoring Hydrocortisone Therapy
Do I need to have blood tests and how often should these be taken?
Blood spots (17OHP measurements done at home PRE DOSE)
Why looking at the cortisol levels over the full 24 hour period is important
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
Other important measurements undertaken during 24 hour profiles
Glucose, insulin and fasting lipids
Chapter 26 - Missing a Dose of Hydrocortisone
Missing a dose when taking hydrocortisone 3 times a day
Missing the afternoon dose
Missing doses when taking hydrocortisone 4 times per day
Missing the lunchtime dose
Missing the afternoon dose
Never double the fludrocortisone dose
Chapter 27 - Intravenous, Intramuscular and Other Forms of Hydrocortisone
Intravenous and intramuscular hydrocortisone
Preparations of hydrocortisone
Hydrocortisone sodium phosphate 100 mg/ml and 500 mg/5 ml solution for injection (previously known as Efcortesol)
Infusion of hydrocortisone
Intravenous injection of hydrocortisone
How do cortisol levels compare with the different preparations?
Hydrocortisone suppositories
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?
Chapter 29 - Stress Dosing for Sick Days, Surgery, Exams and Exercise
What happens during illness, trauma and surgery
Double dose—how much does it actually deliver to the body?
Does a double dose last longer?
Managing sickness at home
Taking your child’s temperature
Extra dose at 4 a.m. (04:00) in illness
What to do with trauma accidents
When to call an ambulance
In accident and emergency
Surgery in patients receiving glucocorticoids
Getting your family doctor involved
Hospital responsibilities
Chapter 30 - Practical Information Emergency Kit and School Information
Information for school and nursery care
Medical management plan for schools or nursery care
Illness at school or nursery
Chapter 31 - Other Treatments for Congenital Adrenal Hyperplasia—Prednisolone, Dexamethasone and Adrenalectomy
Prednisone and prednisolone
Prednisolone formulations
Contra-indications and drug interactions of prednisolone and dexamethasone
Chapter 32 - Fludrocortisone 9 Alpha-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
Hydrocortisone medication changes during travel
Clock changes or daylight saving
Chapter 34 - Thinking Through Blood Results–A Quiz
Single blood tests and blood spots for 17-hydroxyprogesterone
What further information does looking at a full 17-hydroxyprogesterone profile over 24 hours give?
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
Congenital Adrenal Hyperplasia
：A Comprehensive Guide
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