Classic Congenital Adrenal Hyperplasia: What to Expect in the Future

For now, you should expect your child to be on lifelong treatment. These daily medications replace hormones your child doesn’t make. They also lower the level of androgens. Those are testosterone-like hormones that can affect growth and sexual development.

Marks takes hydrocortisone three times a day to replace cortisol. Fludrocortisone, which she takes twice a day, is an aldosterone replacement. It helps keep enough salt in her body to support normal blood pressure and fluid levels. As a child, she learned to take her pills by swallowing small candies. In elementary school, she’d report to the school nurse every day at lunch for her meds. She became more independent in middle school, and by late high school, she “fully took ownership” of her treatment.

Mimi Kim, MD, a pediatric endocrinologist at Children’s Hospital Los Angeles and co-director of the hospital’s Congenital Adrenal Hyperplasia Clinic, says high school is when it’s time to teach teens how to make doctor appointments and pick up their medications. This helps prepare them to manage their care when they leave home. Ideally, their pediatric providers will work with the new team over one to two visits, “so we’re not just leaving them and hoping for the best,” she says. 

Adrenal Crisis: How to Prepare for an Emergency

Most of the time, people with classic CAH live their life like anyone else. They just take medications and see doctors more often. 

When your stress hormones dip too low, so do your blood sugar and blood pressure. You might feel sick to your stomach, throw up, or get a headache. But sometimes the early warning signs of adrenal crisis aren’t easy to spot and look like other illnesses. You may not notice them fast enough. 

For this reason, it’s important for people with classic CAH to carry or have access to an emergency adrenal crisis kit that includes a hydrocortisone shot. Other things to consider include:   

• If you’re going on a trip or are away from home, do you have your emergency kit?
• If you’re sending your child to a sleepover or overnight camp, do the adults there know how to give the medication if needed?
• Does your child or friends and family know the warning signs of adrenal crisis? 
• Does your local fire department know who your child is and that they have classic CAH?
• If you call 911, are medical responders allowed to give a hydrocortisone shot?
• Does your child have a medical ID bracelet? 

Finlayson gives families specific instructions for how and when to lessen the chances of adrenal crisis. For example, people with classic CAH need an extra dose of hydrocortisone by mouth or with a shot if they: 

• Are vomiting 
• Get sick with a high fever 
• Have a major injury like a broken leg   

But what about when you’re not sure if your child needs more medication? 

“I usually tell people you can err on the side of caution and give a stress dose,” Finlayson says.

What Are the Long-Term Health Effects of Treatment?

People with classic CAH often need to take a little more cortisol than the body would naturally make to curb extra androgens and “keep your system calm,” Kim says. How might that extra cortisol affect your child in the long run? 

While this doesn’t happen to everyone, people with classic CAH who are on steroid treatment are more likely to have:

• Obesity 
• High blood pressure
• Other cardiometabolic risk factors

This can start in early childhood or adolescence and stay through adulthood. 

You can lessen your child’s chances of major weight gain, or other unwanted health effects like insulin resistance or diabetes, if you check their hormone levels regularly to make sure they’re not overmedicated. 

Marks gets lab work done every 6-12 months. Her doctor also checks for bone loss – a big concern for people with classic CAH on long-term steroid treatment – every 5 years.

“I recently had a bone scan,” Marks says. “Everything was normal and looked great.”

Future Fertility: Can People with Classic CAH Start a Family?

While people with classic CAH can make eggs or sperm, and many have children, your child could have issues that might cause so-called subfertility, Finlayson says. 

If they were assigned female at birth, their sex organs might look a bit different on the outside. But they should ovulate if they’re taking medication to curb extra androgens. The obstetrician can adjust treatment if they’re trying to have a baby. The same can be done throughout pregnancy. 

“My endocrinologist told me that once you get towards the end of pregnancy or go into labor, you may have to bump up your steroids to manage that physical stressor,” Marks says. “But I’m friends with a lot of women with CAH who have kids, and they’re very healthy and doing well.” 

People assigned male at birth who have classic CAH may also need to adjust their steroid medication. 

“While this may seem counterintuitive, excess testosterone can suppress some of the aspects of sperm production,” Finlayson says. 

In some people assigned male at birth who have classic CAH, noncancerous lumps (adrenal rest tumors) can grow in the testicles. If they’re big enough, these masses can damage sperm production or make it harder for sperm to pass through the testicles. 

Raising the steroid dose may shrink the tumor, Finlayson says. If that doesn’t help, they’ll need to talk to a urologist or fertility specialist about next steps. 

When the time comes, your child might also want to meet with a genetic counselor. They can let them know: 

• How likely they are to pass the condition to their child 
• How their partner can get tested for a mutation 
• What kind of early genetic tests their baby may need

A Positive Outlook 

On a day-to-day basis, Marks doesn’t think much about her condition. Neither do her parents. 

“We have all found a good balance between being aware but also just being present and enjoying life,” she says.

When Kim meets with families of a newborn or toddler with classic CAH, she spends a good chunk of time talking about promising new treatments such as crinecerfont (Crenessity) that don’t replace corticosteroids but could mean smaller doses, as well as other treatments in the pipeline, including gene therapy.

“The first thing I tell them is, when Johnny is 12 years old, we’re going to have a whole new set of tools in the toolbox,” Kim says. “It’s just going to look radically different, and it’s coming around faster than we thought.”