CAH: how to get the most from treatment

Congenital adrenal hyperplasia (CAH) is a genetic disorder that affects a pair of hormone-producing glands called the adrenal glands. Located on the top of each kidney, and each about the size of a walnut, the adrenal glands produce cortisol, aldosterone, and androgens. These hormones play essential roles in regulating blood pressure, metabolism, stress response, growth, and development.

When a person has CAH, mutations or variants to different genes (small sections of DNA) interfere with the normal production of these hormones. CAH can affect a person’s growth and development. Severe types of CAH can lead to serious (potentially life-threatening) complications, including adrenal crisis and severe dehydration related to excessive sodium loss.

Treatment for CAH

Treatment for CAH will depend on the type of CAH a person has and the symptoms they are experiencing. People with milder types of CAH may not require treatment or may only require minimal treatment. People with severe types of CAH—types that can cause serious complications related to low levels of adrenal hormones—will require lifelong therapy with medications.

Steroid medications that replace adrenal hormones are a mainstay of treatment for CAH. These include glucocorticoids (which replace cortisol) and mineralocorticoids (which replace aldosterone). Treatment may also include salt supplements to balance electrolyte levels, medications to control blood pressure, medications to reduce excess androgens, and surgery.

Again, treatment is individualized to meet a person’s specific symptoms and needs.

New and emerging treatments

New therapies that treat CAH are under development. A focus of new therapies is reducing excess androgen production by the adrenal glands and reducing the dosages of glucocorticoid medications required to control CAH.

People with CAH typically require high dosages of glucocorticoid medications. The prolonged use of high-dose glucocorticoid medications is associated with side effects, including weight gain, diabetes, and osteoporosis. Monitoring for these side effects is an important topic to discuss with a healthcare team and an important component of treatment.

A medication that reduces excess androgen production in people with classic CAH became available in 2024. This medication helps reduce the dose of glucocorticoid medication a person requires to control CAH. Additional therapies are under development and may be available through clinical trials.

How to get the most out of a CAH treatment plan

If you are living with CAH, or if you are caring for a child or adolescent with CAH, the following are five strategies to get the most out of treatment.

Follow your treatment plan

While treatment for CAH is different for everyone, adherence is important to every treatment plan. Adherence means following a treatment plan exactly as prescribed by a healthcare provider—taking all doses of a medication, taking each dose at the correct time, and following any nutritional or other lifestyle recommendations.

Know the dose you need to take and when, know what each medication does, and know how the different parts of your treatment plan work together. Be honest with your healthcare provider if you are having any difficulty taking a medication as prescribed.

Keep your healthcare appointments

Regular appointments are needed to monitor hormone levels, monitor for treatment side effects, and to check up on how you are feeling. Even if you have a mild form of CAH, routine healthcare appointments are an essential part of staying healthy.

Prepare for your appointments by writing down questions and topics you want to cover. Bring this list with you when you see your healthcare provider. It can also help to keep a journal where you record notes on symptoms, how you are feeling, and how treatment is going.

Keep learning

Patient education is important for several reasons. Knowing more about CAH will prepare you to talk to your healthcare team, advocate for yourself or your child, and make treatment decisions. Knowing what can impact symptoms and treatment helps you provide your healthcare team with the information they will need to guide you through treatment. Patient education is also critical in the management of CAH—a person will need to learn how to prevent events like adrenal crisis and when to seek medical care.

Follow a healthy lifestyle

While treatment goals for CAH will vary from person to person, the ultimate goal of treating any health condition is to be as healthy as possible. Good nutrition, regular physical activity, good sleep habits, routine healthcare, and managing stress all promote good overall health and well-being. A person should also be aware of the ways that CAH and medications that treat CAH can impact cardiovascular health, metabolic health, bone health, mental health, and fertility.

Build your support network

Living with a chronic health condition isn’t easy, but having a good support system can help make things easier. A support system can include:

• Friends and loved ones you can rely on for practical and emotional support
• Counselors or other mental health professionals
• Support groups where you can connect with other people affected by CAH
• Organizations that provide patient education and support, such as Living with CAH and CARES Foundation

Support is another topic you can discuss with your healthcare providers, who may have their own recommendations for resources that can help you.