Congenital Adrenal Hyperplasia

Chances are, you never heard of congenital adrenal hyperplasia until your child’s diagnosis. CAH centers around their body’s adrenal glands, right above their kidneys. These glands make three important hormones:

• Cortisol.
• Androgen.
• Aldosterone.

These hormones work together to regulate a lot of things, like blood pressure, the onset of puberty and how their body responds to illness or stress. If your child has CAH, they’re missing an important enzyme called 21-hydroxylase.

Their adrenal glands need this enzyme to make hormones. If it can’t, the hormones are out of balance — and that’s how CAH starts.

There are two types of CAH, and both are treatable:

Classic congenital adrenal hyperplasia

First, there’s classic CAH. It’s typically diagnosed at birth and can show up in two ways.

• Salt-wasting CAH: This is when your child’s adrenal glands don’t make enough aldosterone, which regulates their body’s salt (sodium) levels. Low aldosterone levels can cause low blood pressure, low blood sugar levels and dehydration. Without treatment, it can cause shock, coma or even death.
• Simple-virilizing (non-salt wasting) CAH: Your child will have low aldosterone levels, but these counts don’t drop as low as with salt-wasting CAH, and the symptoms aren’t life-threatening.

Along with low aldosterone, your child will have low cortisol and high androgen, an imbalance that can cause problems with your child’s general health and sexual development. If your child’s cortisol is low, it may lead to a condition called adrenal crisis which may require emergency treatment with a medicine called hydrocortisone. Early puberty (precocious puberty) is another condition that can affect development. A condition called atypical genitalia is another.

Babies assigned male at birth (AMAB) who have classic CAH may have enlarged penises. They could also have small testicles and noncancerous (benign) testicular tumors.

Babies assigned female at birth (AFAB) have uteruses, ovaries and fallopian tubes, but on the outside, their reproductive organs may look like male genitals. As they grow older, they may also develop facial hair and deep voices.

Non-classic congenital adrenal hyperplasia

The second type of CAH is milder. Though androgen imbalances trigger non-classic CAH, it doesn’t affect the other hormones. Your child may not have symptoms. Or they may have mild ones like:

• Rapid growth.
• Early puberty.
• Acne.
• Infertility.

Children AFAB may also have a lot of body hair and facial hair, and their periods may be irregular. Kids AMAB may have enlarged penises, small testicles and early male-pattern baldness.

Diagnosing Congenital Adrenal Hyperplasia at Cleveland Clinic Children’s

We diagnose CAH differently depending on if it’s classic or non-classic.

Classic CAH diagnosis

Before birth, your provider may check for classic CAH using amniocentesis or chorionic villus sampling. After your child is born, we look for physical signs like atypical genitalia. We also check for CAH during newborn screening tests before your little one leaves the hospital.

Non-classic CAH diagnosis

Non-classic congenital adrenal hyperplasia often has few to no symptoms, so diagnosis may not happen until adolescence or early adulthood. To confirm non-classic CAH, we may do:

• Physical exam.
• Blood tests.
• Urine tests.
• Genetic tests.

Meet Our Congenital Adrenal Hyperplasia Team

While many CAH symptoms are related to sexual development, this condition affects other parts of your child’s body, too. That’s why they’ll have a care team of providers from different specialties managing their treatment, like:

• Pediatric endocrinologists.
• Pediatric urologists.
• Pediatricians.
• Child psychologists.
• Child life specialists.
• Genetic counselors.

Congenital adrenal hyperplasia requires lifelong treatment. Our team focuses on managing your child’s hormone levels, which can help them have more typical growth and sexual development. We’ll consider many things when building their treatment plan:

• What type of CAH do they have?
• Do they have symptoms?
• What are those symptoms?
• Are those symptoms severe?

Treating classic CAH

Your child’s care team will keep a close eye on their condition. They’ll do this through regular checkups and blood tests to check hormone levels. To help balance these levels, your child may need to take daily medications, like:

• Salt supplements to help increase blood sodium levels.
• Glucocorticoids to replace missing cortisol.
• Mineralocorticoids to replace missing aldosterone.

If your baby was born with atypical genitals, we may talk about whether you want surgery for your child — or if you want to wait until your child is older and can have a voice in the decisions about surgery. In either case, planning for surgery can be stressful, so we’ll make sure you understand what to expect every step of the way.

Treating non-classic CAH

When it comes to non-classic congenital adrenal hyperplasia, having no symptoms often means your child won’t need treatment. And if their symptoms are mild, they may need a low dose of glucocorticoids. This treatment may not need to be lifelong.

Mental and emotional well-being

It’s important to help your child with their mental and emotional health. Managing a lifelong condition like CAH can be stressful. Our child life specialists and child psychologists are here to listen to their concerns. These experts will guide your child through rough days and celebrate the really good ones.

Living With Congenital Adrenal Hyperplasia

If your child has certain types of CAH, they may need treatment for life. And this means they’ll age out of care at Cleveland Clinic Children’s. But there’s no need to worry. We’ll help them move easily to experienced adult providers at Cleveland Clinic. Our combined teams will make sure this change is as seamless as possible.

Taking the Next Step

Your child’s congenital adrenal hyperplasia diagnosis may mean they need care for the rest of their life. Medications. Surgery. Counseling. It may feel like a lot. Please know that you and your child are not alone in this journey. We’re here to support you both and your family every step of the way — through diagnosis, treatment and compassionate care throughout their life.