Congenital Adrenal Hyperplasia

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.

Cover
Title page
Contents
Copyright
Personal Story
A Medical View
Introduction
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
Index

Life Sciences

Physical Sciences & Engineering

Social Sciences & Humanities

Health

Congenital Adrenal Hyperplasia

A Comprehensive Guide

Purchase options

Institutional subscription on ScienceDirect

Peter C. Hindmarsh

Kathy Geertsma