Powered By
Congenital adrenal hyperplasia (CAH) is a genetic condition that affects the adrenal glands, which are two small organs above the kidneys that produce hormones. CAH can lead to unhealthy hormone levels. When left untreated, CAH can lead to abnormal levels of hormones like cortisol, aldosterone, and androgens.
There are two main types of CAH: classic and nonclassic. Treatment for classic CAH focuses on raising or lowering levels of these hormones to control CAH symptoms. Occasionally, people with nonclassic CAH may take these medications, too, but they may not need them.
Unfortunately, treating CAH with hormones is challenging. It’s possible to undertreat CAH, which fails to control CAH symptoms, but it is also possible to overtreat it, which can be associated with medication side effects. Finding just the right dose of medication 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.
CAH causes various ailments, some of which may become life-threatening or lead to complications like infertility. Classic CAH, the more severe form of the condition, is usually diagnosed shortly after birth. Symptoms result from high androgen levels and low cortisol or aldosterone levels.
According to Cleveland Clinic, female infants with classic CAH may be born with external sex organs that have an atypical appearance. During early puberty, females with congenital adrenal hyperplasia may develop thick and dark body hair, excess facial hair, larger muscles, and a deep voice. 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 appear earlier than expected. In addition, they may develop benign (noncancerous) testicular adrenal rest tumors.
CAH also affects growth. Children with CAH may have rapid growth spurts and bone maturation. High amounts of androgens early in life make the bones age and grow faster. These androgens cause the growth plates on the bones to close early. In addition, high doses of glucocorticoids can suppress growth. This helps explain why, although they’re tall as children, adults with CAH who are finished growing may be shorter than other people in their age group, especially if their CAH wasn’t managed well when they were younger.
The most severe form of classic CAH is called salt-wasting CAH. In addition to having 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 signs of severe untreated salt-wasting CAH may include:
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 their medication requirements change.
Currently, there are two basic treatments for CAH. The first is glucocorticoids, replacement hormones that restore cortisol to normal levels. The second is synthetic mineralocorticoids, like fludrocortisone, which mimic aldosterone and therefore boost levels in people with salt-wasting CAH. Some people with salt-wasting CAH also need to take sodium supplements. If you stop taking your medication, it can lead to more severe symptoms or even dangerous medical emergencies.
Your doctor will monitor the effectiveness of these treatments over time with regular testing, including blood tests. Your child’s healthcare provider will tell you how often testing is necessary and which tests are necessary.
Cushing’s 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 for a long time can lead to symptoms of Cushing’s syndrome. The symptoms a person has will depend on how high their dose of glucocorticoids is and how long they take it.
Symptoms of overtreatment with cortisol may include:
People with Cushing’s syndrome can have a more challenging time regulating their emotions. They may be tired, depressed, irritable, or sleepless and have trouble concentrating.
According to Mayo Clinic, adult women with Cushing’s syndrome may have irregular or no periods. Cushing’s syndrome may cause erectile dysfunction, infertility, and low libido (sex drive) in men. In children, Cushing’s 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 healthcare provider to reverse them.
To help prevent Cushing’s 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 and signs of shock such as:
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.
Mineralocorticoids that replace aldosterone directly affect the kidneys’ regulation of electrolytes, specifically:
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. These only occur with very high doses of mineralocorticoids, though. Both glucocorticoids and mineralocorticoids can raise blood pressure, but mineralocorticoids are more likely to cause chronic hypertension.
One study followed children with CAH for a median 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.
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 (Crenessity) has been approved by the U.S. Food and Drug Administration (FDA) after clinical trials. Researchers found that it allows children with CAH to take lower doses of glucocorticoids while still maintaining satisfactory hormone 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 healthcare options for others in the future. If you’re interested in participating in clinical trials, ask your healthcare provider about studies that might be a good fit for you.
On CAHteam, people share their experiences with CAH, get advice, and find support from others who understand.
What symptoms and side effects have you experienced with CAH? Let others know in the comments below.
Get updates directly to your inbox.
Continue with Facebook
Sign up with your email
Become a member to get even more
Join
We'd love to hear from you! Please share your name and email to post and read comments.
You'll also get the latest articles directly to your inbox.