Classic congenital adrenal hyperplasia (CAH) is a serious genetic disorder that affects the adrenal glands. Those are two small organs on top of the kidneys that make hormones to help your body work the way it should. But sometimes they can’t make the hormones you need, which can be life-threatening.
While there’s no cure, treatment can help manage symptoms. People with CAH may need a mix of medication and mental health support. Surgery might also be necessary in some cases.
Who Treats Classic Congenital Adrenal Hyperplasia?
Treatment starts shortly after birth. As your child grows, they may see different kinds of specialists. The makeup of their medical team depends on their:
- Age
- Sex organs
- Symptoms
How well they adjust to their body as they grow also affects treatment.
Different health care workers treat people with classic CAH throughout their life. Starting in childhood, that may include one or more of the following:
- Pediatrician
- Pediatric endocrinologist
- Urogynecologist
- Urologist
- Reproductive endocrinologist
- Geneticist
- Psychologist or another mental health professional
When the time comes, ask your child’s doctor about specialists who treat classic CAH in teens and adults. Consider having this talk several years before your child ages out of pediatric care. This way, they’re well-prepared to take charge of their treatment when they grow up.
Medication for Classic Congenital Adrenal Hyperplasia
People with classic CAH need daily hormone replacement therapy for life. This wards off mild symptoms and lowers the chances of adrenal crisis. That’s a life-threatening condition that mostly affects people who have salt-wasting CAH, a severe form that makes you less able to keep sodium and water in your body.
Medications used to treat classic CAH include:
Glucocorticoids. Also called corticosteroids, these drugs are the go-to treatment for classic CAH. They boost levels of cortisol in the body and help lower extra androgens. You take them every day by mouth, usually as a pill.
Types of glucocorticoids typically used to treat classic CAH include:
- Dexamethasone
- Hydrocortisone
- Prednisolone
- Prednisone
Hydrocortisone is preferred for babies and young kids because it’s short-acting and less likely to stunt their growth. Children may need three to four doses a day. As they reach adulthood and stop growing, they can often switch to a longer-acting medication, usually taken once or twice daily.
A new medication, crinecerfont (Crenessity), was recently approved by the FDA for people ages 4 and older. It may help curb the amount of corticosteroid needed by lowering androgen levels.
Fludrocortisone. This is a synthetic mineralocorticoid that replaces aldosterone, a key hormone that helps you keep salt and fluid. Some glucocorticoids can act as mineralocorticoids, but people with CAH typically take fludrocortisone along with a cortisol replacement.
Mineralocorticoid replacement is recommended for most everyone with classic CAH who has an aldosterone insufficiency, but the daily dose of fludrocortisone is generally higher in newborns.
Salt supplements. Babies with salt-wasting CAH need a daily sodium supplement when they’re born. Once they reach age 3, your doctor might suggest your child eat more salty foods instead of or in addition to a salt pill.
Anti-androgen drugs. If cortisol replacement isn’t enough to lower excess androgens, your doctor may suggest drugs like spironolactone to lower these masculinizing sex hormones.
Hormonal birth control. If you have irregular periods or none at all, your doctor may suggest hormonal birth control (such as the pill) to regulate your menstrual cycle.
Side Effects of Treatment for Classic CAH
Your child’s doctor will help you find the right medication to get their hormone levels within the normal range or close to it. But treatment for CAH may come with side effects.
Excess glucocorticoids may raise cortisol levels too high and lead to metabolic problems, including Cushing syndrome. This can cause symptoms such as:
- High blood sugar or type 2 diabetes
- Weight gain or obesity
- Slowed growth
- Bone loss
- Fatty tissue in between your shoulders
- Stretch marks
- Round face
- High blood pressure
Too-high levels of mineralocorticoids can raise blood pressure in children and adults.
People with classic CAH need regular checkups to make sure they’re on the right dose of medication and to watch for any long-term health problems or side effects from the disorder or its treatment.
Your child’s doctor may routinely:
- Check their hormone levels.
- Track their height and weight.
- Measure their blood pressure.
- Get X-rays of the hand to check bone growth.
Your doctor may also suggest healthy lifestyle changes such as exercising regularly or eating nutritious food to lessen the chances of treatment-related metabolic problems, including weight gain, high blood sugar, or high blood pressure.
Monitoring and Adjusting Treatment for Classic CAH
If you have a newborn with classic CAH, they’ll need close monitoring for at least the first few months of life. After that, your child may need checkups every 3-4 months to check their hormone levels and make dose changes as needed.
With regular treatment, people with CAH tend to handle everyday emotional and physical stress without more steroids. But your body needs more cortisol in physically stressful situations.
Extra steroids usually aren’t harmful. But you should ask your doctor how and when to give your child with classic CAH a “stress dose.”
People with classic CAH may need to take more glucocorticoids if they’re:
- Sick with a high fever
- Dehydrated because of throwing up or having diarrhea
- In need of major surgery
- Badly injured
Stress dosing can lessen the chances of adrenal crisis, but it may still happen. If you care for someone with classic CAH, a doctor or nurse will show you how to use an emergency hydrocortisone shot. Older kids and adults should learn how to give themselves a shot.
Signs of adrenal crisis include:
- Belly pain
- Nausea or throwing up
- Sweating a lot
- Tiredness or weakness
- Fast heart rate
- Confusion that comes out of nowhere
- Passing out
In case of emergency, people with classic CAH should wear a medical ID bracelet or necklace. The info should tell medical professionals that you have adrenal insufficiency or are cortisol dependent and need hydrocortisone.
Surgery for Classic Congenital Adrenal Hyperplasia
Newborn girls, or infants assigned female at birth, may have outer genitals that look more like male sex organs. In the past, doctors recommended early surgery to make the clitoris smaller or to create a more typical vaginal opening. But there’s controversy over this practice, especially when it comes to babies and toddlers, who can’t give their consent.
A growing number of experts suggest delaying surgery that isn’t medically necessary until your child is old enough to decide if they want to change the appearance of their sex organs. Talk to your doctor or a psychologist who works with people who have classic CAH to learn more about what’s right for your family.
Mental Health Support for Classic Congenital Adrenal Hyperplasia
Social and psychological support play a key role in the well-being of children and adults with classic CAH.
While children who have classic CAH may or may not show more symptoms of anxiety or depression than kids without the condition, it’s still a good idea to have your child talk with a trained professional about their feelings or any concerns they may have about their body.
Mental health professionals who work with children or adults who have classic CAH or sex differences may include:
- Child life specialists
- Social workers
- Licensed counselors
- Psychologists
Children or teens with classic CAH may feel better about their bodies when they talk to other people who have the same condition. Ask your doctor or social worker to connect you with in-person or virtual peer support.
If you’re a caregiver to someone who has classic CAH and have trouble managing your stress, ask your child’s doctor to refer you to a mental health professional who works with families affected by hormonal disorders.
Questions to Ask Your Doctor
If you’re a parent or caregiver of a newborn or child with classic CAH, questions may include:
- What are all my child’s treatment options?
- How do I give my baby medication while breastfeeding?
- What are the possible side effects of treatment?
- How do we manage side effects?
- How often do we need to come in for checkups?
- When and how do we do stress dosing?
- What happens if my child has a minor illness or injury?
- Do you recommend mental health treatment? If so, when?
- How and when should I explain classic CAH to my child?
- Are there clinical trials my child can join?
If you’re an older child or adult living with classic CAH, you may want to ask:
- Who do I talk to if I’m interested in genital surgery?
- What kind of doctor treats adults with classic CAH?
- What other specialists should I see?
- Will I have trouble with fertility?
- What do I do about medication if I want to get pregnant?
- Should I meet with a genetic counselor?
- Can you connect me with other people who have classic CAH?
Find more resources and support for classic CAH through groups such as the CARES Foundation, Magic Foundation, and National Adrenal Diseases Foundation.
Show Sources
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