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Our bodies need a delicate balance of hormones to support healthy growth, energy, and body function. In people with congenital adrenal hyperplasia (CAH), levels of some hormones are too high or too low. This imbalance can affect development, blood sugar, blood pressure, and even survival.
There’s no cure for CAH, but treatment can help manage symptoms and prevent life-threatening complications. Care plans vary based on the type of CAH and guidance from an endocrinologist (a hormone specialist).
Read on to learn about treatment options that can help manage CAH and support lifelong health.
CAH develops when the adrenal glands — small organs on top of the kidneys — can’t make enough of certain hormones. This usually happens because of a missing or nonworking enzyme called 21-hydroxylase. Without this enzyme, hormone production gets out of balance.
Hormones affected by CAH include:
There are two main forms of congenital adrenal hyperplasia — classic and nonclassic.
Classic CAH is less common but more serious. This type can cause severe, even life-threatening symptoms starting in infancy. Babies are usually diagnosed shortly after birth through newborn screening.
Classic CAH is divided into two types, based on how much aldosterone the body can make:
Both salt-wasting and simple-virilizing CAH can cause the adrenal glands to make too many androgens.
Nonclassic CAH, or late-onset CAH, is milder and more common. This type may be diagnosed in childhood, adolescence, or adulthood, depending on symptoms. Milder cases may be harder to diagnose and may not need treatment.
An endocrinologist will recommend a treatment plan based, in part, on the type and severity of CAH.
People with classic CAH usually need lifelong medication to manage symptoms. However, the dose may be adjusted over time to meet your changing needs. It’s important to keep up with all recommended medical appointments and testing.
It’s also key for teens and young adults with classic CAH to transition from pediatric to adult care with support from their healthcare team.
People with classic CAH can’t make enough cortisol. A type of steroid hormone known as a glucocorticoid, cortisol is important for the body’s response to stress. People with low levels of cortisol can also have high levels of androgens, which can lead to a number of symptoms.
Doctors replace missing cortisol with glucocorticoid medicines, or steroids, that act as synthetic versions of cortisol.
Most people with classic CAH take daily hydrocortisone. This medication helps correct hormone imbalances in CAH with fewer side effects.
If hydrocortisone doesn’t work well, older teens who are done growing and adults may use prednisone or dexamethasone, both of which last longer in the body. However, these long-acting steroids may raise the risk of more serious side effects.
People with classic CAH are at risk of a health emergency called an adrenal crisis, which is caused by dangerously low levels of cortisol. People under stressful conditions for the body, such as illness or injury, may need to take a higher dose of glucocorticoid than usual to avoid cortisol deficiency and an adrenal crisis.
People with nonclassic CAH may not need steroid replacement. However, doctors may recommend steroid treatment for some people, such as:
Although the goal of treatment is to replace the cortisol your body can’t make due to CAH, taking higher doses of steroids for long periods can lead to side effects. These can include:
Balancing the risk of treatment side effects and CAH symptoms can be challenging, so it’s important to work with an endocrinologist experienced in treating CAH.
Newer modified-release hydrocortisone medicines are available in Europe and may become available in the United States. These drugs allow hydrocortisone to be released slowly in the body rather than immediately. This can help maintain the right levels of cortisol and androgens and may lower the risk of long-term side effects.
Some newer medicines target hormone pathways in a different way in CAH. One is crinecerfont (Crenessity), a new type of drug called a corticotropin-releasing factor type 1 (CRF1) receptor antagonist. The U.S. Food and Drug Administration (FDA) approved the drug at the end of 2024 for people 4 years and older with classic CAH.
Crinecerfont works by reducing the body’s production of androgens, making it possible to use lower doses of glucocorticoids as well.
People with classic CAH who can’t make enough aldosterone may need mineralocorticoid therapy. The drug fludrocortisone helps the body hold on to salt and water. Some children may also need salt supplements.
This treatment is especially important in salt-wasting CAH to keep electrolytes (like sodium and potassium) in balance and prevent dehydration.
Children with classic CAH may develop central precocious puberty (early puberty) at a very young age. According to the National Institutes of Health, this early puberty can lead to symptoms such as:
Gonadotropin-releasing hormone agonists may be used to delay early puberty until a more typical age. This can help prevent early menstrual periods and reduce the risk of shorter height as an adult. This treatment helps support a more typical final adult height as well as long-term bone health.
Although hormone replacement with glucocorticoids works for many people with CAH, long-term treatment with steroids — especially if higher doses are needed — can have troubling side effects. For this reason, researchers are testing new therapies that may work better and carry fewer risks.
Most of these new medications alter hormone levels by targeting certain proteins. Drugs being studied in various phases of clinical trials for classic CAH include:
Some of these drugs have shown promise in helping manage hormone imbalances caused by CAH. However, more research is needed and currently underway to better understand the long-term benefits and risks. If you’re interested in learning more about clinical trials or taking part in one, talk with your healthcare team or visit ClinicalTrials.gov.
Living with CAH can be complex. There can be changes to how your body looks and to your quality of life. Some people may feel self-conscious or avoid social activities, which can hurt self-esteem.
Also, hormone changes, side effects, and the challenges of a daily treatment schedule can affect a person’s mood. Some researchers have found that youth with CAH are about 1.7 times more likely to experience depression or anxiety compared with their peers.
Mental health is just as important as physical health, and mental health support can improve quality of life. Your healthcare provider can provide referrals and resources during regular check-ins.
Infants who are female with classic CAH often have atypical external genitalia noted at birth, according to Cleveland Clinic. Some adults with CAH or parents of children with CAH may choose surgery to change the appearance of the genitals.
Surgery is a major decision. A team of specialists in CAH can help guide you through the risks and benefits so you can make an informed choice that feels right for you or your child.
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Eu descobri minha hiperplasia adrenal congênita aos 18 anos, eu queria engravida então fiz tratamento com corticoides, mas aos 35 anos parei de tratamento. Faço regularmente acompanhamento. Agora com… read more
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