A Simple Guide to Congenital Adrenal Hyperplasia, Diagnosis, Treatment and Related Conditions

By Kenneth Kee

This book describes Congenital Adrenal Hyperplasia, Diagnosis and Treatment and Related Diseases

Congenital adrenal hyperplasia (CAH) is a cluster of hereditary disorders that have an effect on the adrenal glands.

The adrenal glands sit on top of the kidneys and secrete the hormones cortisol and aldosterone.

CAH is produced by genetic defects that stop these glands from producing these 2 hormones either completely or at normal rates.

Everybody has 2 of these glands, one on top of each kidney.

CAH is produced by 3 deficiencies:

1. Too little cortisol

The adrenal glands of infants born with CAH cannot produce enough of the hormone cortisol.

Cortisol is occasionally called the stress hormone since it is secreted when the patient is under stress.

It helps to regulate blood sugar.

This hormone has an effect on:
a. Energy levels,
b. Blood sugar levels,
c. Blood pressure, and
d. The body's response to stress, illness, and injury.

2. Too little aldosterone

In about 75% of cases, infants born with CAH cannot produce enough of the hormone aldosterone, which assists the body to maintain the proper level of sodium (salt) and water and helps regulate blood pressure.

Aldosterone assists the kidneys to function and balance the electrolytes.

3. Too much androgen

In certain cases, infants born with CAH secrete too much of male hormones, androgens.

Appropriate levels of these hormones are required for normal growth and development in both boys and girls.

CAH can also produce imbalances in the hormone adrenaline, which influences:
a. Blood sugar levels,
b. Blood pressure, and
c. The body's response to stress.

The hormone imbalance most often observed in CAH cases is too little of a substance called 21-hydroxylase.

The adrenal glands require 21-hydroxylase to produce proper quantities of hormones.

This type of CAH is occasionally termed as 21-hydroxylase deficiency.

A small number of cases of CAH are produced by deficiency in a substance similar to 21-hydroxylase, termed 11-hydroxylase.

This type of CAH is occasionally termed as 11-hydroxylase deficiency.

In CAH due to 11-hydroxylase deficiency, the adrenal glands produce too little cortisol and too many androgens.

This type of CAH does not cause aldosterone deficiency.

Other very rare types of CAH are:
4. 3-beta­hydroxy-steroid dehydrogenase deficiency,
5. Lipoid CAH, and
6. 17-hydroxylase deficiency.

The defect that produces CAH is inherited from both parents and passed to their child.

Classical CAH is responsible for around 95 % of all CAH cases.

It mostly happens in infants and young children.

The adrenal glands normally produce cortisol and aldosterone with the help of an enzyme termed 21-hydroxylase.

With classical CAH this enzyme is absent, which indicates the adrenal glands cannot produce these hormones.

Also, the body starts producing too much of a male sex hormone called testosterone.

This induces masculine features to happen in girls and develop early in boys.

Non-classical or late-onset CAH is a milder form that happens in older children and young adults.

CAH is an autosomal recessive disorder.

TABLE OF CONTENT
Introduction
Chapter 1 Congenital Adrenal Hyperplasia
Chapter 2 Causes
Chapter 3 Symptoms
Chapter 4 Diagnosis
Chapter 5 Treatment
Chapter 6 Prognosis
Chapter 7 Adrenal Insufficiency (Updated)
Chapter 8 Life and Death of an Adrenal Gland
Epilogue

• Language: English
• Publisher: Kenneth Kee
• Release date: May 26, 2021
• ISBN: 9781005047696

Kenneth Kee

Medical doctor since 1972.Started Kee Clinic in 1974 at 15 Holland Dr #03-102, relocated to 36 Holland Dr #01-10 in 2009.Did my M.Sc (Health Management ) in 1991 and Ph.D (Healthcare Administration) in 1993.Dr Kenneth Kee is still working as a family doctor at the age of 74However he has reduced his consultation hours to 3 hours in the morning and 2 hours inthe afternoon.He first started writing free blogs on medical disorders seen in the clinic in 2007 on http://kennethkee.blogspot.com.His purpose in writing these simple guides was for the health education of his patients which is also his dissertation for his Ph.D (Healthcare Administration). He then wrote an autobiography account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.comThis autobiography account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Disorders” into a new Wordpress Blog “A Family Doctor’s Tale” on http://ken-med.com.From which many free articles from the blog was taken and put together into 1000 eBooks.He apologized for typos and spelling mistakes in his earlier books.He will endeavor to improve the writing in futures.Some people have complained that the simple guides are too simple.For their information they are made simple in order to educate the patients.The later books go into more details of medical disorders.He has published 1000 eBooks on various subjects on health, 1 autobiography of his medical journey, another on the autobiography of a Cancer survivor, 2 children stories and one how to study for his nephew and grand-daughter.The purpose of these simple guides is to educate patient on health disorders and not meant as textbooks.He does not do any night duty since 2000 ever since Dr Tan had his second stroke.His clinic is now relocated to the Buona Vista Community Centre.The 2 units of his original clinic are being demolished to make way for a new Shopping Mall.He is now doing some blogging and internet surfing (bulletin boards since the 1980's) startingwith the Apple computer and going to PC.The entire PC is upgraded by himself from XT to the present Pentium duo core.The present Intel i7 CPU is out of reach at the moment because the CPU is still expensive.He is also into DIY changing his own toilet cistern and other electric appliance.His hunger for knowledge has not abated and he is a lifelong learner.The children have all grown up and there are 2 grandchildren who are even more technically advanced than the grandfather where mobile phones are concerned.This book is taken from some of the many articles in his blog (now with 740 posts) A Family Doctor’s Tale.Dr Kee is the author of:"A Family Doctor's Tale""Life Lessons Learned From The Study And Practice Of Medicine""Case Notes From A Family Doctor"

Book preview

A

Simple

Guide

To

Congenital Adrenal Hyperplasia,

Diagnosis,

Treatment

And

Related Conditions

By

Dr Kenneth Kee

M.B.,B.S. (Singapore)

Ph.D (Healthcare Administration)

Copyright Kenneth Kee 2021 Smashwords Edition

Published by Kenneth Kee at Smashwords.com

Dedication

This book is dedicated

To my wife Dorothy

And my children

Carolyn, Grace

And Kelvin

This book describes Congenital Adrenal Hyperplasia, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.

(What You Need to Treat Congenital Adrenal Hyperplasia)

This e-Book is licensed for your personal enjoyment only. This eBook may not be re-sold or given away to other people. If you would like to share this book with another person, please purchase an additional copy for each reader.

If you’re reading this book and did not purchase it, or it was not purchased for your use only, then please return to Smashwords.com and purchase your own copy.

Thank you for respecting the hard work of this author.

Introduction

I have been writing medical articles for my blog: http://kennethkee.blogspot.com (A Simple Guide to Medical Disorder) for the benefit of my patients since 2007.

My purpose in writing these simple guides was for the health education of my patients.

Health Education was also my dissertation for my Ph.D (Healthcare Administration).

I then wrote an autobiography account of my journey as a medical student to family doctor on my other blog: http://afamilydoctorstale.blogspot.com.

This autobiography account A Family Doctor’s Tale was combined with my early A Simple Guide to Medical Disorders into a new Wordpress Blog A Family Doctor’s Tale on http://kenkee481.wordpress.com.

From which many free articles from the blog was taken and put together into 800 eBooks.

Some people have complained that the simple guides are too simple.

For their information they are made simple in order to educate the patients.

The later books go into more details of medical disorders.

The first chapter is always from my earlier blogs which unfortunately tends to have typos and spelling mistakes.

Since 2013, I have tried to improve my spelling and writing.

As I tried to bring the patient the latest information about a disorder or illness by reading the latest journals both online and offline, I find that I am learning more and improving on my own medical knowledge in diagnosis and treatment for my patients.

My diagnosis and treatment capability has improved tremendously from my continued education.

Just by writing all these simple guides I find that I have learned a lot from your reviews (good or bad), criticism and advice.

I am sorry for the repetitions in these simple guides as the second chapters onwards have new information as compared to my first chapter taken from my blog.

I also find repetition definitely help me and maybe some readers to remember the facts in the books more easily.

I apologize if these repetitions are irritating to some readers.

Chapter 1

Congenital Adrenal Hyperplasia (CAH)

What Is Congenital Adrenal Hyperplasia?

Congenital adrenal hyperplasia (CAH) is a cluster of hereditary disorders that have an effect on the adrenal glands.

The adrenal glands sit on top of the kidneys and secrete the hormones cortisol and aldosterone.

CAH is produced by genetic defects that stop these glands from producing these 2 hormones either completely or at normal rates.

Everybody has 2 of these glands, one on top of each kidney.

CAH is produced by 3 deficiencies:

1. Too little cortisol

The adrenal glands of infants born with CAH cannot produce enough of the hormone cortisol.

Cortisol is occasionally called the stress hormone since it is secreted when the patient is under stress.

It helps to regulate blood sugar.

This hormone has an effect on:

a. Energy levels,

b. Blood sugar levels,

c. Blood pressure, and

d. The body's response to stress, illness, and injury.

2. Too little aldosterone

In about 75% of cases, infants born with CAH cannot produce enough of the hormone aldosterone, which assists the body to maintain the proper level of sodium (salt) and water and helps regulate blood pressure.

Aldosterone assists the kidneys to function and balance the electrolytes.

3. Too much androgen

In certain cases, infants born with CAH secrete too much of male hormones, androgens.

Appropriate levels of these hormones are required for normal growth and development in both boys and girls.

CAH can also produce imbalances in the hormone adrenaline, which influences:

a. Blood sugar levels,

b. Blood pressure, and

c. The body's response to stress.

The hormone imbalance most often observed in CAH cases is too little of a substance called 21-hydroxylase.

The adrenal glands require 21-hydroxylase to produce proper quantities of hormones.

This type of CAH is occasionally termed as 21-hydroxylase deficiency.

In CAH due to 21-hydroxylase deficiency, the adrenal glands cannot produce enough cortisol or aldosterone.

Also, the glands produce too much androgen.

People with 21-hydroxylase deficiency also may not secrete enough adrenaline.

A small number of cases of CAH are produced by deficiency in a substance similar to 21-hydroxylase, termed 11-hydroxylase.

This type of CAH is occasionally termed as 11-hydroxylase deficiency.

In CAH due to 11-hydroxylase deficiency, the adrenal glands produce too little cortisol and too many androgens.

This type of CAH does not cause aldosterone deficiency.

Other very rare types of CAH are:

4. 3-betahydroxy-steroid dehydrogenase deficiency,

5. Lipoid CAH, and

6. 17-hydroxylase deficiency.

The defect that produces CAH is inherited from both parents and passed to their child.

CAH happens in around 1 out of every 10,000-15,000 children.

Types of Congenital Adrenal Hyperplasia

Classical CAH

Classical CAH is responsible for around 95 % of all CAH cases.

It mostly happens in infants and young children.

The adrenal glands normally produce cortisol and aldosterone with the help of an enzyme termed 21-hydroxylase.

With classical CAH this enzyme is