A Simple Guide to Congenital Adrenal Hyperplasia, Diagnosis, Treatment and Related Conditions (eBook, ePUB)
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This book describes Congenital Adrenal Hyperplasia, Diagnosis and Treatment and Related DiseasesCongenital 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 cortisolThe adrenal glands of infants born with CAH cannot ...
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
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
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