Maintaining proper hormone levels is important for healthy development and function, but people with congenital adrenal hyperplasia (CAH) have hormone levels that are too high or low. CAH causes hormone imbalances that lead to developmental problems and other symptoms, some of which may be life-threatening. Sometimes CAH is noticeable in infants and children, but in others the condition may not be apparent until later in life.

While there’s no cure for CAH, treatment can help manage the symptoms and promote healthy function and development. Your treatment plan will depend on what type of CAH you or your child has and what your endocrinologist (doctor who treats hormone problems) and other specialists recommend.

Read on to learn about different treatment options for CAH.

Complications of CAH

CAH occurs when the body cannot make the right amount of hormones needed for proper growth and development. People with CAH can have an imbalance in one or more of the following hormones:

• Cortisol, which regulates levels of stress, blood sugar, and blood pressure
• Aldosterone, which helps to control the amount of water and sodium in the body
• Androgens, sometimes called “male sex hormones,” which are important for normal development

There are two main types of congenital adrenal hyperplasia: classic congenital adrenal hyperplasia and nonclassic congenital adrenal hyperplasia. Classic CAH is a rarer disease that causes severe, potentially life-threatening symptoms in infants. Nonclassic CAH — also called late-onset CAH — is a less severe disease, but it may not be diagnosed until problems arise later in life.

CAH is a lifelong condition, but some symptoms can be managed with treatment. Below are six options that may be used to treat CAH. The best treatment option will depend, in part, on the type of CAH you or your child has.

1. Glucocorticoid Therapy

Many people with CAH are unable to make enough cortisol, the hormone that helps to regulate energy and stress levels. Cortisol is a type of steroid hormone known as a glucocorticoid. People with low levels of cortisol can also have high levels of androgens, which can lead to a number of severe symptoms. To help correct the effects of low cortisol levels, CAH may be treated using glucocorticoid therapy.

Classic CAH

Most children and adults with classic CAH require treatment with a glucocorticoid called hydrocortisone. This can address the hormone imbalance with a smaller risk of side effects.

If treatment with hydrocortisone isn’t effective, your doctor may recommend another glucocorticoid called prednisone. This drug is a long-acting glucocorticoid, meaning it stays in the body longer than hydrocortisone. However, long-acting steroids may increase the risk of severe side effects in children and should, therefore, only be given to adults and children who have reached puberty.

People with classic CAH are at risk of having a medical emergency known as an adrenal crisis. This is caused by dangerously low levels of cortisol. People under stressful conditions may need to take a higher dose of glucocorticoid than usual in order to avoid an adrenal crisis.

Nonclassic CAH

While nonclassic CAH usually isn’t treated with glucocorticoids, they may help in two cases, according to research in The Journal of Clinical Endocrinology and Metabolism:

• Children who have signs of early puberty and advanced bone age (meaning their bones are developing earlier than expected)
• Adult women who have hyperandrogenism (high androgen levels) and who are infertile

Side Effects

Long-term use of glucocorticoids can lead to a number of side effects, including:

• Skin damage or bruising
• Unusual hair growth
• Acne
• High blood pressure
• Mood changes
• Weight gain
• Mental health problems

Glucocorticoids can also lead to more severe side effects, such as:

• Heart disease or heart failure
• Bone disease
• Glaucoma, a condition that can cause blindness
• Elevated blood glucose (blood sugar), sometimes leading to diabetes

Many side effects of hormone therapy are similar to symptoms of CAH caused by high levels of androgens. Balancing the risk of treatment side effects and CAH symptoms can be challenging to navigate, so it’s important to work with an endocrinologist experienced in treating the condition.

Newer Forms of Glucocorticoid Therapy

Newer drugs containing hydrocortisone have become available in recent years. These drugs allow the hydrocortisone to be released slowly in the body rather than immediately. This does a better job of maintaining the right levels of cortisol and androgens and may decrease the risk of long-term side effects. Some of these preparations are even available in the small doses needed for children with CAH.

2. Mineralocorticoid Therapy

Aldosterone is a different type of steroid hormone known as a mineralocorticoid. If you or your child has low levels of aldosterone, mineralocorticoid therapy may help the body to retain more sodium. The drug fludrocortisone is a mineralocorticoid drug commonly used to treat CAH, especially more severe forms of the disease.

3. Gonadotropin-Releasing Hormone Agonists

Hormone therapy called gonadotropin-releasing hormone (GnRH) agonists may also be used to treat CAH. GnRH agonists are effective in treating early puberty — also called “precocious puberty” — which is a condition that affects some children with CAH.

Early puberty can lead to the following signs appearing at a very young age:

• Facial hair or body hair
• Advanced bone age
• Menstrual periods
• Growth of testicles or breasts
• A deep voice
• Pubic and underarm hair

GnRH agonists can help delay the onset of puberty until a more typical age. This can help decrease the need for steroid hormones and thus avoid unnecessary side effects.

4. Clinical Trials

Although glucocorticoids are effective for many people with CAH, standard hormone replacement therapy hasn’t improved much over the years. The risks of long-term treatment with steroids can also have troubling side effects. Fortunately, research is looking for therapies that may work better and come with fewer risks.

Researchers are conducting clinical trials to find other medications that could be treatment options for CAH. Most of these medications can alter hormone levels by targeting certain proteins. Several types of drugs are still being studied, including:

• Corticotropin-releasing factor type 1 (CRF1) receptor antagonists
• Adrenocorticotropic hormone (ACTH) receptor antagonists
• ACTH antibodies
• Aromatase inhibitors
• Gene therapy

Some of these drugs have shown promising results for people with hormone imbalances caused by CAH. However, more research is still needed to understand the long-term benefits and risks.

Ask your doctor about potential treatments for CAH that are still being studied. They can give you information about the latest research and discuss whether joining a clinical trial may be right for you or your child.

5. Mental Health Support

CAH can cause significant changes in the appearance of the body. Some people living with the condition become self-conscious or uncomfortable about certain aspects of their body, which can impact self-esteem and social engagement. Health complications of CAH itself or side effects of treatment can also negatively affect a person’s mental state. Studies have shown that adults with CAH have a higher risk of mental health problems compared to others.

Mental health is just as important as physical health, and mental health support can improve quality of life. Your health care provider can provide referrals and resources during regular check-ins.

6. Surgery

According to Cleveland Clinic, infants assigned female at birth who have classic CAH may be born with an atypically large clitoris that can look similar to a penis. This is known as “ambiguous genitalia.” In some cases, the genitals may not function normally. Some adults with CAH or parents of babies with CAH choose surgery to restore function and/or modify the appearance of the genitals.

Surgery to alter the genitals is a major procedure that can come with short-term and long-term risks. For children with CAH, a doctor may recommend putting off surgery until the child is old enough to discuss the benefits and risks, voice their preferences, and consent to the procedure. Many people with CAH choose to delay or avoid surgery altogether.

Discussing your options should involve a team of medical specialists who are familiar with surgery for CAH. They can go over the potential risks and benefits so you can make an informed decision about how to move forward.

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.

Do you have more questions about the treatments for congenital adrenal hyperplasia? Share your questions, experiences, and insights in the comments below.