For normal growth and function, our bodies need to make the right amounts of hormones at the right times. Congenital adrenal hyperplasia (CAH) causes imbalances in hormone levels. This can lead to a variety of symptoms that can range from mild to life-threatening. They can vary depending on your age and sex.

It’s important to know how CAH can affect the body and what symptoms to look out for. Always let your health care provider know if you notice any new or changing symptoms.

Different Types of CAH Cause Different Symptoms

CAH is a group of related diseases caused by a problem with the adrenal glands. These glands are located on top of the kidneys and are responsible for making different types of hormones, including:

• Testosterone and other androgens needed for normal sexual development
• Cortisol, which helps to regulate stress, blood pressure, and blood sugar
• Aldosterone, which regulates how much sodium is in the body

The adrenal glands need certain proteins — called enzymes — to make the right amount of hormones. Most people with CAH don't make enough of an enzyme called 21-hydroxylase. This can result in hormone levels that are either too high or too low.

There are two main types of CAH — classic CAH and nonclassic CAH. Classic CAH is typically diagnosed in babies and can cause severe, even fatal, symptoms if left untreated. The most common subtypes of classic CAH are:

• Salt-wasting CAH, which can be life-threatening if left untreated
• Non-salt-wasting CAH (also called simple virilizing CAH), a less severe form of the disease

Nonclassic CAH, on the other hand, is not as severe as classic CAH. Because symptoms aren’t always noticeable at birth, the condition is most often diagnosed later in life.

Some people with CAH have mild symptoms, or even no symptoms at all. However, if you’re living with CAH, it’s important to recognize any signs that something isn’t right. Below are nine symptoms of CAH that you should be aware of.

1. A Salt-Wasting Crisis

Salt-wasting CAH, the most severe form of CAH, is caused by low levels of aldosterone. When aldosterone levels are too low, the body loses too much sodium during urination. This is known as a salt-wasting crisis, and it can happen in children and babies, even days after birth. A salt-wasting crisis can cause:

• Problems with eating
• Dehydration
• Vomiting or diarrhea
• Low energy levels
• Irregular heartbeat
• Weight loss

If a salt-wasting crisis is too severe, the body can go into shock. This is also known as an adrenal crisis. A person goes into shock when their organs aren’t getting enough blood and can’t function properly. Symptoms of shock include:

• Increasing heart rate
• Feeling confused or irritable
• Slipping into a coma

A salt-wasting crisis is a life-threatening event that needs to be treated as soon as possible. If you notice sudden, concerning symptoms in your child, seek emergency medical attention immediately.

2. Atypical Genitals

Androgens are sex hormones required for proper growth and development. If levels of androgens become too high while a fetus is developing in the womb, it can prevent the genitals from developing as usual. Atypical genitals can be caused by different types of classic CAH.

Female infants with CAH may be born with ambiguous genitalia. The clitoris may be larger than normal and, in some cases, may even resemble a penis. Additionally, the labia may be fused together and look more like testicles.

High levels of androgens don’t cause male babies with CAH to have ambiguous genitalia. However, some infants with CAH might have a penis that’s larger than normal.

3. Early Puberty

An imbalance of sex hormones can cause some children with CAH to show signs of puberty earlier than expected. This is called precocious puberty. Children with precocious puberty might experience the following at a young age:

• Body odor
• Deeper voice
• Facial hair
• Pubic hair and hair under the arms
• Growth spurts
• Breast formation
• The start of menstrual periods

Children with CAH can show signs of puberty as early as 2 years old. Reach out to your doctor if you feel your child’s body might be developing too fast.

4. High Blood Pressure

If your body doesn’t make enough cortisol, you can experience high blood pressure, also known as hypertension. This can affect some people with classic CAH who make too little cortisol.

5. Features That Appear Masculine

High levels of androgens lead to body changes traditionally associated with a masculine appearance. People with CAH might have:

• A deep voice
• A lot of body hair

Some people may feel self-conscious about these symptoms. If desired, your health care provider can help you or your child find support or treatment to help manage them.

6. Acne

The hormone imbalance caused by CAH can make someone prone to having acne. Although this doesn’t usually cause any serious complications, the acne can be severe in some cases and may lead to poor self-esteem.

7. Shorter Height

Over the long term, hormone imbalance can also affect a person’s height. On average, people born with CAH are shorter as adults compared to people without CAH. However, adult height has a wide range of “normal,” so being shorter isn’t necessarily something to worry about.

8. Irregular Periods

If CAH isn’t adequately treated early in life, it can cause problems with menstrual periods. Many people with CAH have irregular periods, meaning their period doesn’t come on a consistent basis. In some cases, periods can stop altogether.

9. Fertility Problems

While some symptoms of CAH are present at birth or early childhood, others may not be noticed until early adulthood. Adults with CAH can experience infertility. Some people with CAH may be more likely to have a miscarriage.

Some people with classic CAH can have benign testicular tumors that affect fertility. These can be screened for with a testicular ultrasound. Studies show that nonclassic CAH does not limit fertility in the same way.

Symptom or Side Effect?

CAH can cause many symptoms, some of which may have lasting effects on the body. To help manage the symptoms, most people with CAH will try steroid hormone therapy to correct the hormone imbalance. While this can make it easier to live with CAH, there’s also a risk of long-term side effects from hormone therapy. Some of these side effects can even mimic symptoms of the disease itself.

An experienced endocrinologist (hormone specialist) can design a treatment plan, recommend changes in dosage as needed, and help monitor for signs of complications. With the right support, you or your child can navigate the journey and manage life with CAH.

If you are planning a pregnancy, talk to your endocrinologist about adjusting your treatment. Not all people with CAH require glucocorticoid treatment during pregnancy.

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.

What symptoms of congenital adrenal hyperplasia have you noticed? What advice do you have for managing them? Share your insights in the comments below.