If you or your child has been diagnosed with congenital adrenal hyperplasia (CAH), you probably have lots of questions. What are the symptoms of CAH? What causes CAH? What are the treatment options?

Continue reading to learn key facts about CAH, including the types of CAH, common symptoms, how it’s diagnosed, and treatment options.

1. CAH Causes Hormone Imbalances

CAH is a group of conditions that affect your adrenal glands — walnut-sized glands on top of your kidneys that make important hormones, including:

• Cortisol — A hormone that helps regulate your body’s response to stress and illness, your blood pressure, blood sugar, and energy levels
• Mineralocorticoids — Hormones such as aldosterone that help regulate your blood pressure and the level of salt and water in your body
• Androgens — Sex hormones including testosterone that are important in growth, development, and producing masculine features

People with CAH have a shortage or absence of an enzyme that helps to make one or more of these important hormones. An enzyme is a specialized protein that helps build or break down substances in your body.

2. CAH Is Caused by Genes Inherited From Your Parents

CAH is an inherited disorder — a condition that’s passed down from parents to children via a mutation (variant, or change) on a specific gene.

CAH has an autosomal recessive inheritance pattern. With this inheritance pattern, it’s possible to carry the genetic variant for CAH without having any symptoms. If a child has CAH, both parents either have CAH or carry the genetic variant for CAH.

3. Most People With CAH Have Classic or Nonclassic CAH

According to the National Organization for Rare Disorders (NORD), about 95 percent of people with CAH have one of the two main forms of CAH — classic CAH or nonclassic CAH.

The two main types of CAH are caused by a shortage or lack of an enzyme called 21-hydroxylase. That’s why classic CAH and nonclassic CAH may also be referred to as 21-hydroxylase deficiency. This is the most common enzyme deficiency associated with CAH.

Classic CAH is the most severe type of CAH and can become fatal if it isn’t treated. There are two subtypes of classic CAH:

• Salt-wasting CAH — Makes it hard to regulate salt and water levels in the blood
• Simple-virilizing CAH — A type of CAH that does not cause problems regulating salt and water levels

Most people with classic CAH have the salt-wasting form, which is also the most severe form of CAH. People with nonclassic CAH have milder symptoms than those with classic CAH.

Other Types of CAH

Less commonly, CAH is caused by a shortage or lack of another enzyme that the adrenal gland needs to make certain hormones. Less common types of CAH include:

• 11-beta-hydroxylase deficiency
• 17-alpha-hydroxylase deficiency
• 3-beta-hydroxysteroid dehydrogenase deficiency
• P450 oxidoreductase deficiency
• Lipoid congenital adrenal hyperplasia

4. CAH Is Rare

NORD reports that classic CAH affects about 1 in every 10,000 to 15,000 people in the United States and Europe. The nonclassic form is more common, with about 1 in every 100 to 200 people in the general population. Other types of CAH are more rare.

Risk factors for CAH include:

• Having a parent with CAH
• Having two parents without CAH but who carry a gene that causes CAH
• People of certain ethnic/racial descent, including Ashkenazi Jews, Latinos, those of Mediterranean descent, Yugoslavs, and Yup’ik Eskimos

5. CAH Symptoms Vary Depending on Which Type You Have

The symptoms of CAH can vary based on several factors, including:

• Type of CAH you have
• Severity of CAH
• Your sex

Classic CAH Symptoms

The hormones affected by CAH can cause different symptoms. In classic CAH, high androgen levels can cause the following symptoms, per Cleveland Clinic:

• Ambiguous genitalia (external genitalia that resemble male genitals) in female infants
• Enlarged penis
• Early puberty
• Male characteristics in females such as bigger muscles, facial hair, and a deep voice
• Rapid growth in childhood
• Abnormal menstrual periods
• Harmless tumors in the testicles
• Infertility (difficulty or inability to get pregnant)

Low levels of aldosterone in salt-wasting classic CAH can cause:

• Dehydration
• Low blood volume
• Low blood pressure

Too little cortisol in classic CAH may cause a life-threatening condition called an adrenal crisis. Symptoms of an adrenal crisis include:

• Weakness
• Stomach pain
• Nausea and vomiting
• Diarrhea
• Low blood pressure
• Rapid heart rate
• Confusion
• Loss of consciousness or coma

Nonclassic CAH Symptoms

Some people with nonclassic CAH may not have any symptoms at all, per Cleveland Clinic. When symptoms do occur, they are often related to problems with sexual development, such as:

• Early puberty
• Rapid growth in childhood
• Acne
• Enlarged penis with small testicles
• Irregular menstrual periods
• Excess facial hair or body hair
• Male pattern baldness

6. Newborns Are Tested for CAH

In the U.S. and many other countries, CAH is included in newborn screening tests that all babies receive before they leave the hospital. The CAH test checks for classic 21-hydroxylase deficiency. Classic CAH is usually diagnosed at birth or shortly after.

Unborn babies at risk for developing CAH can also be tested before birth.

Other types of CAH, such as nonclassic CAH, are often not detected by newborn screening. This means other types of CAH may not be diagnosed until symptoms begin in childhood or early adulthood.

To check for CAH in children and adults, a health care provider will start by doing a physical exam, asking about symptoms, and checking blood pressure and heart rate. Blood and urine tests can check hormone and salt levels. Genetic testing checks for variants to confirm a CAH diagnosis. An X-ray or other imaging tests may be recommended for children to check for proper bone development.

7. Treatment for CAH Involves a Team of Specialists

Treatment for people with CAH involves a team of health care providers with experience treating this condition. Your health care team may include specialists such as these:

• Endocrinologist — Specialist in hormone-related conditions
• Urologist — Specialist in conditions related to the urinary tract system
• Surgeon — If surgery is required
• Psychologist — To provide support for mental health
• Geneticist — Specialist in diagnosing and treating genetic conditions
• Reproductive endocrinologist — Specialist in infertility

8. CAH Treatment May Include Medications, Surgery, and Other Support

CAH treatment is personalized depending on the type and severity of CAH and the preferences and goals of the person with CAH. Some people with nonclassic CAH or mild symptoms may not need any treatment. In general, the goal of CAH treatment is to correct hormone imbalances and improve quality of life.

Medications for CAH

Medications for CAH help to lower hormone levels that are too high (such as androgens) and ensure there is enough cortisol and aldosterone.

CAH medications may include:

• Glucocorticoids such as cortisol (Cortef)
• Mineralocorticoids such as fludrocortisone (Florinef)
• Salt supplements

People with classic CAH need to take medications every day for the rest of their lives. During times of illness or stress, a higher dose of medications may be necessary. People with nonclassic CAH may not need any medications. If they do need medications, they may only need low doses of glucocorticoids.

It’s also important for people with CAH to understand the potential side effects of medications for CAH and work with their doctors to balance treatment benefits and risks.

Surgery for CAH

Some people with CAH may have genitals that appear atypical or don’t function normally. Some adults with CAH or parents of babies with CAH may consider surgery to modify genital function or appearance.

Decisions about surgery are highly personal, and the topic may be somewhat controversial. Surgery is often considered as a shared decision between people with CAH (or parents of children with CAH) and the health care team. If surgery is desired, some doctors recommend performing it when the infant is 6 to 12 months old. Families can also choose to wait until the child is old enough to understand and express their goals and preferences for their body.

Other Support for CAH

Having CAH can affect mental health, especially in children and adolescents. Psychologists and other mental health providers can help people with CAH handle the social and emotional aspects of this condition.

Children with CAH may also benefit from nutritional support to help ensure proper growth and development.

Talk With Others Who Understand

On CAHteam, the site for people with congenital adrenal hyperplasia and their loved ones, people come together to gain a new understanding of CAH and share their stories with others who understand life with the condition. Have you or your child been diagnosed with CAH? Share your experience in the comments below.