Congenital adrenal hyperplasia (CAH) is a genetic disorder that affects the adrenal glands, which are small organs above the kidneys that produce hormones. CAH can lead to unhealthy hormone levels. Per Mayo Clinic, left untreated, CAH leads to abnormal levels of hormones like cortisol, aldosterone, and androgens. CAH treatment focuses on raising or lowering levels of these hormones to control CAH symptoms.

Unfortunately, treating CAH is challenging. It’s possible to undertreat CAH, which fails to control CAH symptoms, or overtreat, which can lead to side effects. Finding just the right dose of medications can be tricky. Many people with CAH and parents of children with the condition struggle to find the right balance of hormones, especially during puberty and early adulthood.

Learning to recognize the difference between the symptoms of CAH and the side effects of treatment can help you have better conversations with your endocrinologist and ensure you keep feeling your best.

Symptoms of Classic CAH

CAH causes various symptoms, some of which may become life-threatening or lead to complications like infertility. Classic CAH is a more severe form of the disease that’s usually diagnosed at birth. Symptoms result from high androgen levels and low cortisol and/or aldosterone levels.

Female infants with classic CAH may be born with external sex organs that look like male genitalia despite having female anatomy on the inside. During early puberty, thick and dark body hair, excess facial hair, larger muscles, and a deep voice may develop. CAH may also cause irregular periods.

According to Mayo Clinic, male infants with classic CAH may be born with an enlarged penis. Signs of puberty, like voice changes, acne, and pubic hair, may happen earlier than expected. In addition, testicular tumors can develop.

CAH also affects growth. Children with CAH may have rapid growth spurts and bone development. But although they’re tall as children, ultimately, CAH stunts growth. Adults with CAH who are finished growing may be shorter than other people in their age group.

The most severe form of classic CAH is called salt-wasting CAH. In addition to low cortisol and high androgen levels, people with this form of CAH don’t make enough aldosterone. Aldosterone is an important hormone that regulates the body’s sodium levels.

The symptoms of salt-wasting CAH may include:

• Acidic blood
• Dehydration
• Diarrhea
• Low blood pressure
• Low blood sugar
• Irregular heartbeat
• Shock
• Vomiting
• Weight loss

Starting treatment as early as possible — and staying consistent with the treatment plan — can help prevent some of the lasting effects of CAH on the body. However, treatment needs to be monitored and may have to be adjusted as a person grows and changes.

Treatment Options for Hormone Imbalance in CAH

Currently, there are two basic treatments for CAH. The first is glucocorticoids, replacement hormones that restore cortisol to normal levels. The second is mineralocorticoids, which boost aldosterone levels in people with salt-wasting CAH. Some people with CAH also need to take sodium supplements. If you stop taking your medication, it will lead to more severe symptoms or even dangerous medical emergencies.

Side Effects of Overtreatment With Glucocorticoids

Cushing syndrome develops when cortisol levels are too high for an extended period. Because glucocorticoid medications such as hydrocortisone or prednisone raise cortisol levels, taking doses that are too high can lead to symptoms of Cushing syndrome. Symptoms of overtreatment with cortisol may include:

• Acne
• Bruising easily and slow wound healing
• A fatty hump that develops on the upper back between the shoulders
• High blood pressure
• Pink or purple stretch marks
• Rounded “moon” face
• Type 2 diabetes
• Weakened bones
• Weight gain in the trunk, with thin arms and legs

People with Cushing syndrome can have a more challenging time regulating their emotions. They may feel tired, depressed, irritable, sleepless, and have trouble concentrating.

Per Cleveland Clinic, adult women may grow thick and dark hair on their bodies and face and have irregular or no periods. Cushing syndrome may cause erectile dysfunction, infertility, and lower libido (sex drive). Additionally, Cushing syndrome stunts growth

Some of these symptoms, like acne or emotional changes, should improve once cortisol levels are back to normal. However, weakened bones and stunted growth can have lasting effects, such as osteoporosis and short stature. The sooner you recognize the side effects of treatment, the faster you can work with a health care provider to reverse them.

Side Effects of Undertreatment With Cortisol

To help prevent Cushing syndrome with glucocorticoid treatment, doctors may lower the dose of medication. Unfortunately, undertreatment of CAH can lead to the opposite problem and potentially trigger a medical emergency called an adrenal crisis. This life-threatening issue can cause symptoms of shock such as:

• Dehydration
• Confusion and delirium
• Leg and lower back pain
• Low blood pressure
• Stomach pain
• Sudden weakness
• Vomiting and diarrhea

If you have CAH or have a child with CAH, make sure you’re familiar with the signs of an adrenal crisis. If you recognize symptoms of an adrenal crisis, seek medical help right away.

Side Effects of Aldosterone Treatment for CAH

Mineralocorticoids such as aldosterone directly affect the kidney’s regulation of electrolytes, specifically:

• Sodium
• Potassium
• Hydrogen
• Calcium
• Magnesium

Small changes in this regulation can cause major effects on heart and kidney function. Some of the most serious possible side effects of mineralocorticoids include kidney failure and the sudden interruption of blood flow in the body. Both glucocorticoids and mineralocorticoids can raise blood pressure, but mineralocorticoids are more likely to cause chronic arterial hypertension.

One study followed children with CAH for an average of 18.6 years. Researchers found that both glucocorticoid and mineralocorticoid treatment were associated with metabolic side effects like diabetes and heart disease. Sometimes, the problems began early in life, before puberty.

Unfortunately, finding the correct dose of medication during childhood is a common problem with current CAH treatment options.

Future of CAH Treatment

Researchers are always looking for ways to improve the management of CAH for children and adults with different types of CAH. Clinical trials are an opportunity to get access to the latest treatments and participate in important research that can help improve the lives of others with CAH. These studies test new treatments or medicines on people to see if they work and are safe.

For example, a new treatment called crinecerfont completed a phase 3 trial. Researchers found that it allows children with CAH to take lower doses of glucocorticoids while still maintaining good cortisol levels.

Joining a clinical trial can give you access to new treatments that aren’t widely available yet. It also lets you help researchers learn more about different diseases and how to treat them. Plus, by participating, you’re helping to improve health care options for others in the future. If you’re interested in participating in clinical trials, ask your health care provider about studies that might be a good fit for you.

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 CAH have been most significant for you or your child? Have you noticed side effects of too much or too little steroid medication? Share your experience in the comments below.