Key takeaways
- Lifelong hormone replacement therapy is the main treatment for classic congenital adrenal hyperplasia (CAH). People with simple virilizing CAH need glucocorticoid replacement, while those with salt wasting CAH need both glucocorticoid and mineralocorticoid replacement.
- Glucocorticoid replacement helps replace low cortisol and reduce high androgen levels, which can cause rapid growth and early puberty. Finding the right dose matters because too little raises the risk of adrenal crisis, while too much can cause Cushing syndrome.
- Other treatment options may include crinecerfont (approved by the FDA for people ages 4 years and older), surgery for anatomical differences, and mental health support. Regular checkups with an endocrinologist help monitor hormone levels and adjust treatment as needed.
There are two forms of congenital adrenal hyperplasia (CAH): classic and nonclassic. Each type requires different treatments.
Classic CAH includes simple virilizing and salt wasting CAH. These forms of CAH require lifelong hormone replacement therapy to limit symptoms and prevent life threatening complications.
Nonclassic CAH involves less severe hormone imbalances and milder symptoms. Some people with nonclassic CAH never realize they have the condition. Others develop symptoms that may require treatment.
Read on to learn more about CAH treatment goals and options.
The main goal of CAH treatment is to address hormone imbalances that cause unusual growth and development, as well as potentially life threatening complications.
Early and effective treatment for CAH can help prevent certain symptoms and complications.
Treatments can also help manage symptoms and complications when they do occur.
A person’s treatment needs depend on the specific type of CAH they have and the specific symptoms and complications they develop. Treatment priorities and goals can also differ between individuals.
An endocrinologist specializes in hormonal disorders, such as CAH. They can help people with CAH and their caregivers learn about treatment options to meet their specific needs and goals.
Infants with classic CAH should start hormone replacement therapy shortly after birth and continue it throughout their lifetime to manage symptoms and prevent complications. Those with simple virilizing CAH (a form linked to excess androgens, or male hormones) need glucocorticoid replacement. Those with salt wasting CAH need both glucocorticoid and mineralocorticoid replacement.
Some children, adolescents, and young adults with nonclassic CAH may also benefit from glucocorticoid replacement therapy.
Glucocorticoid replacement
Doctors prescribe glucocorticoid medication to replace low levels of cortisol and reduce high levels of androgens in people with classic CAH, as well as some people with nonclassic CAH.
Most people with CAH produce unusually low or undetectable levels of cortisol, which is a hormone that helps regulate the body’s stress response and other functions. A life threatening adrenal crisis can occur when cortisol levels are too low.
Most people with CAH produce unusually high levels of androgens to compensate for low cortisol. Androgens are sex hormones that help regulate growth and development. Excess androgens can cause rapid growth, early puberty, and other differences in development among children and adolescents with CAH.
People with classic CAH need to take glucocorticoid replacement every day to prevent adrenal crisis and support typical growth and development. Children typically take it in the form of hydrocortisone. Adults may take hydrocortisone, prednisone, or dexamethasone.
People with nonclassic CAH may also take glucocorticoid replacement to manage symptoms.
An endocrinologist may need to adjust someone’s glucocorticoid dose to improve their symptom control or reduce treatment side effects. The optimal dose can change with age and during times of physical stress.
Taking a dose that’s too low can increase symptoms of virilization, such as rapid growth, unusual hair growth, or early puberty. It also raises the risk of adrenal crisis in people with classic CAH.
Taking a dose that’s too high can cause Cushing syndrome, a hormonal disorder that raises the risk of certain health conditions.
Signs and symptoms of Cushing syndrome include:
- slowed growthÿ
- weight gain
- rounded face
- increased fat around the bottom of the neck
- fatty hump between the shoulders
- stretch marks on skin
- easy bruising
- weak muscles
- high blood sugar
- high blood pressure
- bone loss
Let your endocrinologist know if you notice signs of virilization, Cushing syndrome, or other changes in growth or development. They may adjust the glucocorticoid dose.
Mineralocorticoid replacement
Doctors prescribe mineralocorticoid replacement with fludrocortisone to replace low levels of aldosterone in people with salt wasting CAH.
Aldosterone is a hormone that helps regulate electrolyte balance. People with salt wasting CAH have unusually low levels of aldosterone, which causes them to lose too much sodium (salt) in their urine. This puts them at risk of severe dehydration and life threatening complications.
Taking daily doses of fludrocortisone helps prevent dehydration and life threatening complications from salt wasting CAH, including adrenal crisis.
Taking too much fludrocortisone can cause high blood pressure. If you or your child develops high blood pressure while taking this treatment, your endocrinologist may adjust the dose.
It’s also important for people with salt wasting CAH to get enough sodium (salt) in their diet, although too much sodium increases the risk of high blood pressure.
Crinecerfont
Crinecerfont (Crenessity) is a medication that reduces excessive androgen production.
Taking this medication reduces the dose of glucocorticoid replacement therapy that someone with classic CAH needs to take.
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Aromatase inhibitor and gonadotropin-releasing hormone agonist therapy
If you have a child with CAH and they develop signs of early puberty or advanced bone age, their endocrinologist may prescribe aromatase inhibitor and gonadotropin-releasing hormone (GnRH) agonist therapy.
Advanced bone age happens when bones mature faster than usual. It can cause children with CAH to be taller than average in childhood but shorter than average in adulthood.
Aromatase inhibitors block an enzyme that converts androgens into estrogens, and GnRH agonists lower sex hormone levels. This helps stop early puberty and delays bone maturation.
If you or your child has anatomical differences in genital or urinary tract development from classic CAH, surgery may be considered. These differences are present at birth in female newborns with classic CAH.
Androgen exposure during fetal development causes atypical or ambiguous genitalia in female newborns with classic CAH. Their clitoris may be enlarged, or the inner lips of their vulva may be fused together.
Female newborns with classic CAH may also have an unusually shallow vagina or a urogenital sinus, which occurs when the bladder, urethra, and vagina don’t fully separate during development.
These anatomical differences may affect urination, menstruation, or sexual function.
In some cases, surgery may be medically necessary or desired to improve function and well-being.
A surgeon can help parents of female infants with classic CAH understand the potential benefits and risks of surgery, as well as the optimal timing. They may recommend delaying surgery until the child is old enough to take part in treatment decisions. Sometimes, surgery is medically necessary at a younger age.
Regular monitoring is an important part of CAH management, especially in children and adolescents. Hormone imbalances from CAH can affect growth rate, bone development, and the timing of puberty. So, tracking these changes over time helps your endocrinologist adjust treatment as needed.
During routine checkups, your endocrinologist will typically:
- measure height and weight to track growth patterns
- check blood pressure
- assess bone age using an X-ray of the hand and wrist
- check hormone levels through blood tests
- monitor for early signs of puberty or virilization
- review any changes in symptoms or side effects
For infants, checkups are recommended every 3 months starting from birth through 18 months of age, with especially close monitoring in the first 3 months of life. After 18 months, visits typically move to every 4 months.
In children with classic CAH, the goal is to support steady, typical growth while avoiding the growth-suppressing effects of a glucocorticoid dose that is too high. Growth velocity and bone age remain the key measures for tracking whether treatment is working.
Adults with CAH also benefit from ongoing monitoring, particularly for bone density, cardiovascular health, and fertility.
Let your endocrinologist know if you notice any unexpected changes in your child’s growth, development, or symptoms between visits.
Managing CAH is a lifelong process. As you or your child moves through different life stages, treatment goals and needs will shift. But staying consistent with care is key to preventing complications and maintaining quality of life.
Transitioning to adult care
Adolescents with CAH should begin transitioning from pediatric to adult care several years before leaving their pediatric endocrinologist. This helps ensure there are no gaps in treatment. A team approach involving both pediatric and adult endocrinologists can help make the transition smoother.
Fertility and pregnancy
CAH can affect fertility in both males and females. If you have CAH and are planning a pregnancy, or are having difficulty conceiving, ask your endocrinologist for a referral to a reproductive specialist. Women with CAH who become pregnant should be managed by an endocrinologist familiar with the condition, as medication adjustments may be needed during pregnancy.
Bone health
Long-term use of glucocorticoids at higher-than-usual doses can affect bone density over time. Your endocrinologist may recommend bone density screening if you have been on higher doses for an extended period.
Genetic counseling
If you have CAH or a family history of the condition and are planning a pregnancy, genetic counseling can help you understand the chances of passing CAH on to your child.
Healthy lifestyle
Maintaining a healthy weight and an active lifestyle can help reduce the risk of metabolic complications associated with long-term CAH management, such as high blood pressure or changes in blood sugar.
Adrenal crisis is a life threatening emergency that happens when cortisol levels are too low. It requires quick treatment with a hydrocortisone injection and follow-up care in a hospital.
Simple virilizing and salt wasting CAH can both cause adrenal crisis, although the risk is higher with salt wasting CAH. The chances of adrenal crisis increase when the body is under physical stress.
If you or your child has simple virilizing or salt wasting CAH, your endocrinologist will prescribe daily doses of glucocorticoid replacement to prevent adrenal crisis. They will ask you to increase the usual dose during times of physical stress, such as before and after surgery, after a major injury, and during an illness with fever.
They will also ask you to keep an emergency kit on hand that includes injectable hydrocortisone.
At the first sign of adrenal crisis, give a hydrocortisone injection and call 911.
Signs and symptoms of adrenal crisis include:
- confusion
- irritability
- rapid heart rate
- loss of consciousness
It’s also important for people with CAH to wear medical alert identification, such as a medical alert bracelet. It should state that the person has CAH and adrenal insufficiency and takes hydrocortisone. This can help medical professionals provide rapid treatment during an emergency.
Social support and mental health care can help people with CAH and their caregivers cope with the challenges of the condition, including potential stress, negative body image, and relationship challenges.
Consider talking with a member of your treatment team if you or your child finds it difficult to manage CAH. Let them know if you’re feeling frequent or severe stress, anxiety, or other mental health challenges.
They may refer you to a support group or other support services for people affected by CAH.
In some cases, they may recommend mental health medication or counseling.
If you or your child has CAH, a doctor can refer you to an endocrinologist who has experience treating CAH. You can also search for an endocrinologist using the Endocrine Society’s online database.
It’s important to attend regular checkups with the endocrinologist to:
- assess hormone levels
- monitor growth and development
- check for treatment side effects
- adjust treatment as needed
Contact the endocrinologist right away if you notice signs of increased virilization, Cushing syndrome, or other health concerns. They may adjust the treatment you or your child takes for CAH.
Also, contact the endocrinologist before surgery, after a major injury, or during an illness with fever. They can help you assess and manage the risk of adrenal crisis during those periods of physical stress.
Taking hormone replacement therapy and other treatments for CAH can help children and adults with this condition manage symptoms and prevent complications while living full and active lives.
Doctors prescribe hormone replacement therapy to replace low levels of hormones in people with CAH, including glucocorticoid replacement for low cortisol and sometimes mineralocorticoid replacement for low aldosterone. Glucocorticoid replacement also helps reduce high levels of androgens from CAH.
They may prescribe the medication crinecerfont along with glucocorticoid replacement in people with classic CAH. This can help lower the glucocorticoid dose they need to take.
Other potential treatments include medications to treat early puberty and delayed bone maturation, surgery to address anatomical differences, and hydrocortisone injections for the emergency treatment of adrenal crisis.
Social support and mental health care can also help people manage this condition.