Congenital adrenal hyperplasic

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Congenital adrenal hyperplasia (CAH) is a group of rare inherited autosomal recessive disorders characterized by a deficiency of one of the enzymes needed to make specific hormones. CAH effects the adrenal glands located at the top of each kidney. Normally, the adrenal glands are responsible for producing three different hormones: 1. corticosteroids, which gauge the body’s response to illness or injury; 2. mineralocorticoids, which regulate salt and water levels; and 3. androgens, which are male sex hormones. An enzyme deficiency will make the body unable to produce one or more of these hormones, which in turn will result in the overproduction of another type of hormone precursor in order to compensate for the loss.

The most common cause of CAH is the absence of the enzyme 21-hydroxylase. Different mutations in the gene responsible for 21-hydroxylase result in different levels of the enzyme, producing a spectrum of effects. CAH due to 21-hydroxylase deficiency is responsible for 95% of all cases of CAH and is broken down further into two subcategories: classical CAH, which can be sub-divided into the salt-losing form or the simple-virilizing form, and non-classical CAH. Classical CAH is by far the more severe form and can result in adrenal crisis and death if not detected and treated. Non-classical CAH is milder, and may or may not present symptoms. Since the absence of 21-hydroxylase makes these individuals unable to make the hormone cortisol and, in the case of salt-losing CAH, aldosterone, the body produces more androgens which cause a variety of symptoms such as abnormal genital development in infant girls. There are other much rarer forms of CAH as well, including 11-Beta hydroxylase deficiency, 17a-hydroxylase deficiency, 3-Beta-hydroxysteroid dehydrogenase deficiency, congenital lipoid adrenal hyperplasia and p450 oxidoreductase deficiency which all present different symptoms. Although CAH is not curable, as long as patients receive adequate care and treatment, they can go on to lead normal lives.


The symptoms of CAH may appear differently depending on factors including your age at diagnosis, and whether you are male or female. Each type of CAH has different symptoms.

Classic CAH

For people living with classic CAH, symptoms occur due to a lack of the enzyme 21-hydroxylase. Doctors group classic CAH into 2 subcategories: salt-wasting CAH and simple virilizing (non-salt-wasting) CAH.

Salt-wasting CAH is the most severe form of this disease. People living with salt-wasting CAH have adrenal glands that don’t produce enough aldosterone, a hormone that helps regulate sodium (salt) levels in the body. Low levels of aldosterone result in too much sodium being lost from the body in urine.

The hormonal imbalances caused by salt-wasting CAH result in severe symptoms, including:


Hyponatremia (low blood sodium levels)

Cardiovascular problems, including low blood pressure and arrhythmias (heart rhythm problems)


Low blood glucose (blood sugar)

Metabolic acidosis (too much acid content in the blood)


Additionally, people living with salt-wasting CAH have high levels of androgens, or male sex hormones, in their bodies. Elevated androgen levels cause other symptoms, including:

Enlarged or ambiguous (abnormal) external genitalia—for example, clitoris enlargement in a female infant

Rapid growth

Premature signs of puberty, including voice changes, early pubic, armpit, and facial hair, and severe acne

Abnormal menstrual periods

Noncancerous testicular tumors


Simple virilizing (non-salt-wasting) CAH causes a less-severe aldosterone deficiency. Androgen levels are also elevated in this type of CAH. Symptoms of simple virilizing CAH may include:

Ambiguous (unusual) external genitalia, particularly in females

Development of male characteristics, such as bulky muscles and a deep voice, in females or prematurely in boys

Nonclassic CAH

People with nonclassic CAH also have too little 21-hydroxylase enzyme activity, but this deficiency isn’t as severe as in other forms of the disease. You may be unaware you have this form of CAH because your symptoms are more mild. Children, teenagers and adults are all diagnosed with nonclassic CAH.

The symptoms of nonclassic CAH include:

Early signs of puberty, including acne and excess facial or body hair in females

Rapid growth in childhood and as a teenager

Irregular menstrual periods

Male-pattern baldness

Early puberty changes in a boy, for example early pubic hair and an enlarged penis but with small testicles



The most common cause of CAH is the lack of the enzyme known as 21-hydroxylase. CAH may sometimes be called 21-hydroxylase deficiency. This enzyme is required by the body to make proper amounts of hormones. There are other much rarer enzyme deficiencies that also cause CAH .

Risk factors

The most common cause of CAH is the lack of the enzyme known as 21-hydroxylase. CAH may sometimes be called 21-hydroxylase deficiency. This enzyme is required by the body to make proper amounts of hormones. There are other much rarer enzyme deficiencies that also cause CAH .

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People who have classic CAH are at risk of adrenal crisis. This is a life-threatening medical emergency that requires immediate treatment. Adrenal crisis can occur within the first few days after birth. It can also be triggered at any age by infectious illness or physical stress such as surgery.

Very low levels of cortisol in the blood can cause diarrhea, vomiting, dehydration, low blood sugar levels, seizures and shock. Aldosterone also may be low, which leads to dehydration and low sodium and high potassium levels. The nonclassic form of CAH doesn't cause adrenal crisis.

People who have either classic or nonclassic CAH may experience fertility problems.


You cannot prevent CAH. It is a genetic disorder. You can get it from your parents or a random gene mutation. If you have the condition, you can pass it on to your children.