Congenital Adrenal Hyperplasia

What is congenital adrenal hyperplasia?

Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting your adrenal glands. You have one adrenal gland on top of each kidney. The adrenal glands produce important hormones your body needs to function properly. These hormones include:

• Cortisol: Cortisol helps your body respond to illness, injury and stress. It’s also in charge of regulating your body’s blood pressure, energy levels and blood sugar levels.
• Aldosterone: Aldosterone helps your body maintain the correct levels of salt (sodium) and water. It also controls your blood pressure and blood volume.
• Androgen: Androgens are male sex hormones such as testosterone. They help kick off puberty and play an important role in normal growth and development.

If you have CAH, you lack a specific enzyme your adrenal glands need to make one or more of these hormones. Without this enzyme, your adrenal glands:

• May not produce enough cortisol.
• May not produce enough aldosterone.
• May produce too much androgen.

What are the different types of congenital adrenal hyperplasia (CAH)?

Two main types of CAH make up 95% of all cases. These types are classic congenital adrenal hyperplasia and nonclassic congenital adrenal hyperplasia.

Classic congenital adrenal hyperplasia (CAH)

Classic CAH is the more serious form of the disease. It can cause adrenal complications such as shock and coma. If not found and treated early, it can be fatal. Diagnosis of classic CAH typically happens at birth. There are two subtypes of classic CAH:

• Salt-wasting CAH: Salt-wasting is the most severe form of CAH. If you have salt-wasting CAH, your adrenal glands produce too little aldosterone. Without enough aldosterone, your body can’t regulate the salt (sodium) levels in your blood. Low levels of aldosterone result in too much sodium being lost from your body through your pee (urine). In addition, your body produces too little cortisol and makes too much androgen.
• Simple-virilizing CAH: Simple-virilizing or non-salt wasting is a more moderate form of CAH. If you have this type, your aldosterone deficiency is less severe. There aren’t any life-threatening symptoms. But your body still doesn’t produce enough cortisol and makes too much androgen. The increase in androgens may cause symptoms related to sexual development.

Nonclassic congenital adrenal hyperplasia (CAH)

Nonclassic CAH is the mildest form of CAH. It usually doesn’t show up until later in childhood, adolescence or adulthood. You may or may not see symptoms. The overproduction of androgens may cause symptoms related to sexual development.

There are several other rare forms of CAH, which each have different symptoms.

Who does congenital adrenal hyperplasia affect?

Congenital adrenal hyperplasia can affect anyone. It affects infants, children and adults.

How common is congenital adrenal hyperplasia?

Classic CAH affects as many as 1 in every 10,000 to 15,000 people living in the United States and Europe. Nonclassic CAH affects about 1 in every 100 to 200 people. Both classic and nonclassic CAH affect people worldwide.

What are the symptoms of congenital adrenal hyperplasia?

CAH can cause various symptoms depending on the type and your sex. Symptoms of CAH may include:

Classic CAH

Classic CAH causes high levels of androgens in your body. Elevated androgen levels may lead to symptoms related to your sex hormones. In both salt-wasting and non-salt wasting CAH, these symptoms may include:

• Ambiguous genitalia in infants assigned female at birth (AFAB). Your baby’s external sex organs resemble typical male genitals. But your baby still has typical internal female organs.
• Enlarged penis in infants assigned male at birth (AMAB).
• Premature signs of puberty. This may include voice changes, severe acne and early pubic, armpit and facial hair.
• Development of male characteristics in those AFAB. This may include bulky muscles, a deep voice and excess facial hair.
• Rapid growth.
• Abnormal menstrual periods.
• Noncancerous (benign) testicular tumors.
• Infertility.

In addition, hormonal imbalances caused by salt-wasting CAH may result in severe adrenal symptoms. These symptoms may include:

• Dehydration.
• Low blood sodium levels (hyponatremia).
• Low blood pressure (hypotension).
• Irregular heartbeat (arrhythmia).
• Low blood glucose (blood sugar).
• Too much acid content in your blood (metabolic acidosis).
• Vomiting.
• Diarrhea.
• Weight loss.
• Shock.

Nonclassic CAH

Nonclassic CAH is a more mild form of the disease. You may be unaware you have this form of CAH. The symptoms of nonclassic CAH may include:

• Rapid growth.
• Acne.
• Precocious (early) puberty.
• Excess facial or body hair in people AFAB.
• Irregular menstrual periods.
• Infertility.
• Male-pattern baldness.
• Enlarged penis but small testicles in people AMAB.

What causes congenital adrenal hyperplasia?

The shortage or absence of an enzyme called 21-hydroxylase is the most common cause of CAH. Genetic mutations affect your levels of this enzyme. Less commonly, the absence of an enzyme called 11-hydroxylase causes CAH.

CAH is an autosomal recessive disorder. You receive two copies of every gene in your body — one from each parent. CAH occurs when you inherit a mutated copy of the gene that causes the deficiency from both of your parents.

How is congenital adrenal hyperplasia diagnosed?

Classic CAH

Your baby’s healthcare provider will screen them for CAH before they leave the hospital. This is part of the normal newborn screening. Your baby’s provider will do a blood test by pricking your newborn’s heel. This screening determines whether your baby has classic CAH.

You may consider prenatal genetic testing if you’re pregnant and already have one child with CAH. Your healthcare provider can check for CAH through amniocentesis or chorionic villus sampling.

Nonclassic CAH

Diagnosis of nonclassic CAH may not occur until you or your child begin to show symptoms of the disease. In some cases, this may not happen until early adulthood. Your healthcare provider will diagnose nonclassic CAH through:

• Physical examination.
• Blood test.
• Urine test.
• Genetic testing.

How is congenital adrenal hyperplasia treated?

Treatment for CAH depends on the type and how severe your symptoms are. There isn’t a cure for CAH, but you may find symptom relief with medications and other treatments.

Classic CAH

Your healthcare provider will monitor your condition. They’ll order regular blood tests to check your hormone levels. The goal of treatment is to ensure normal growth and sexual development.

Your provider may prescribe several medications to treat your symptoms. These medications include:

• Salt supplements: Your newborn may need salt (sodium chloride) supplements.
• Glucocorticoids: Glucocorticoids replace the cortisol your body doesn’t make on its own. You may need extra glucocorticoids during times of stress or illness.
• Mineralocorticoids: Mineralocorticoids replace the aldosterone your body doesn’t make on its own.

If you have classic CAH, you’ll need to take these medications daily for life. If you stop taking the medications, your symptoms will return.

Another treatment option includes surgery for ambiguous genitalia. Surgery two to six months after birth can correct the appearance and function of your baby’s genitals. In some cases, it may be appropriate to delay surgery for several years.

Nonclassic CAH

If you don’t have any symptoms, you may not need treatment. If you have mild symptoms, you may need a low dose of glucocorticoids. You usually won’t need lifelong treatment.

If you or your child has CAH, it’s important to seek mental healthcare to address any concerns. Mental healthcare is an important part of CAH treatment and can lead to an improved quality of life.

What complications are associated with congenital adrenal hyperplasia (CAH)?

Classic CAH causes you to lose too much water and salt in your urine. You’re at risk for serious complications, including imbalances of electrolytes like potassium. Left untreated, these imbalances can lead to:

• Irregular heartbeat (arrhythmia).
• Cardiac arrest.
• Death.

Untreated nonclassic CAH can have complications as well. In people assigned male at birth (AMAB), it can lead to:

• Early puberty.
• Short stature.

In people assigned female at birth (AFAB), it can lead to:

• Permanent male body traits.
• Irregular periods.
• Infertility.

Surgery to correct ambiguous genitalia carries its own risks of complications. These include infection, bleeding and scarring.

How can I prevent congenital adrenal hyperplasia?

You can’t prevent congenital adrenal hyperplasia (CAH) because it’s a genetic condition. If you have a family history of CAH or you already have a child with CAH, you may want to consider genetic counseling and/or genetic testing. You can learn about your risk of passing on the condition to your children.

What are the outcomes after treatment for congenital adrenal hyperplasia (CAH)?

With early detection and medication, you can lead a healthy, productive life with CAH. If you have classic CAH, you’ll need to take your medications daily for life. If you stop taking your medications, your symptoms will return.

Most people with CAH have good health, but you may be shorter than other adults. In some cases, congenital adrenal hyperplasia can affect your fertility. If you were born with ambiguous genitalia, you may need psychological care. Reach out to your healthcare provider if you need any help after treatment.

How can I lose weight with congenital adrenal hyperplasia?

Certain medications used to treat CAH may cause weight gain. You should speak with your healthcare provider about your weight. They can help you determine if the weight gain is due to a medical issue. They may be able to adjust the dosages of your medication. They’ll discuss with you a diet and exercise plan that can help you maintain a healthy weight.

Is congenital adrenal hyperplasia a disability?

Some agencies may consider adrenal disorders a disability. The complications caused by the specific disorder are looked at when determining if CAH qualifies as a disability.

A note from Cleveland Clinic

Learning your child has a genetic condition may seem overwhelming. But children born with congenital adrenal hyperplasia (CAH) have a good prognosis with early detection and treatment. CAH can have some difficult complications, so early treatment is vital. If you’re planning on becoming pregnant, ask your healthcare provider about genetic testing. You can identify your risk of having a child with a genetic condition.