People who are living with congenital adrenal hyperplasia (CAH) know that the disease can appear in a variety of forms. CAH causes an imbalance in the body’s hormones, leading to a wide range of symptoms in children and adults. It’s important to know how CAH can affect your body and what symptoms to look out for.

For normal growth and function, our bodies need to make the right amounts of hormones at the right times. Congenital adrenal hyperplasia 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.

CAH symptoms may change over time. Always let your healthcare provider know if you notice any new or changing symptoms.

Different Types of CAH Cause Different Symptoms

Congenital adrenal hyperplasia 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. These include:

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

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

The form of CAH you have affects which symptoms you experience. There are two main forms of CAH — classic CAH and nonclassic CAH. Classic CAH is typically diagnosed in babies. In its most severe form, it can cause serious, even fatal, symptoms if untreated. The most common subtypes of classic CAH are:

• Salt-wasting CAH — In this form of CAH, the body wastes salt, which causes dehydration and other problems related to cortisol deficiency. It can be life-threatening if left untreated.
• Non-salt-wasting CAH — Also called simple virilizing CAH, this less severe form of the disease may not have the same problems with salt wasting. People with this form of classic CAH can also experience puberty- or growth-related symptoms and adrenal crises, but they may not be salt-wasting adrenal crises.

Nonclassic CAH is a milder form of CAH. Because symptoms aren’t noticeable at birth, the condition is most often diagnosed later in life. Although it can show up in childhood or adolescence, sometimes the condition is so mild that someone could have nonclassic CAH and not know it.

No matter what form of CAH you have, it’s important to recognize any signs that something isn’t right. Below are eight symptoms of CAH to be aware of.

1. A Salt-Wasting Adrenal Crisis

Salt-wasting CAH, the most severe form of CAH, is caused by low levels of cortisol and aldosterone. When aldosterone levels are too low, the body loses too much sodium and water during urination. When a cortisol deficiency, severe dehydration, and other salt-loss issues cause a medical emergency, this is known as a salt-wasting adrenal crisis. This can happen in children and babies, even in the days and weeks after birth. A salt-wasting adrenal crisis can cause:

• Problems with eating
• Dehydration
• Repetitive vomiting
• Diarrhea
• Low energy levels
• Irregular heartbeat
• Weight loss
• Unusual drowsiness or unresponsiveness

If a salt-wasting adrenal crisis is too severe, the body can go into shock. 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
• Losing consciousness

A salt-wasting adrenal crisis is a life-threatening event that needs to be treated as soon as possible. This includes an emergency injection of hydrocortisone, which your endocrinologist can review with you. If you notice sudden, concerning symptoms in your child, seek emergency medical attention immediately.

2. Atypical Genitalia

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 lead to atypical external genitalia in classic CAH.

Female infants with CAH may be born with atypical external genitalia, even though the baby has typical internal female organs. The clitoris may be larger than normal, and the labia may be fused partially or fully together.

High levels of androgens don’t cause male babies with CAH to have atypical genitalia, although the size of the penis could be larger than average.

3. Early Puberty

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

• Body odor
• Deeper voice
• Facial hair
• Pubic hair and hair under the arms
• Faster growth or growth spurts
• Well-developed muscles
• Breast formation
• The start of menstrual periods
• Increased penis size

Reach out to your doctor if you feel your child’s body might be developing too fast.

4. Features Affected by Male Hormones

High levels of androgens in people with CAH can lead to development of features that could include:

• Early or excess facial hair, armpit hair, or body hair
• Acne
• Faster growth and body maturation
• Early puberty
• Irregular periods

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

5. 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. You can see a dermatologist for additional help.

6. Shorter Height

CAH can affect a person’s growth and height. People born with CAH may reach a shorter adult height than they otherwise might have based on their parents’ heights.

7. Irregular Periods

If CAH isn’t adequately treated early in life, it can cause problems with menstrual periods. People with CAH can have irregular periods, meaning their period doesn’t come on a consistent basis. In some cases, periods can also be abnormally heavy.

8. 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 nonclassic CAH may be more likely to have a miscarriage.

Classic CAH can cause 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 males.

CAH is caused by genes passed down from parents to children. If you have CAH or a child with CAH and you’re planning to get pregnant, you may consider genetic testing or speaking with a genetic counselor.

Symptom or Side Effect?

CAH can cause many symptoms, some of which may have lasting effects on the body. There are treatment options which can help, and hormone replacements may be necessary. CAH treatments may also have side effects, which are different from the effects of CAH itself.

People with CAH, especially classic forms, can correct a hormone imbalance by taking corticosteroid (steroid) medications to replace cortisol and mineralocorticoids to replace aldosterone. For nonclassic CAH, people may take hormone replacement or other medications that can make it easier to live with CAH. It’s important to consider the potential side effects of hormone therapy over time.

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.

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