Classic congenital adrenal hyperplasia (CAH) is a serious genetic disorder found at birth or in early childhood. It causes problems with your adrenal glands, which make hormones your body needs to grow and develop.
If your child is diagnosed with classic CAH, they’ll have to take steroids to replace those hormones for the rest of their lives. But side effects – some dangerous – are possible. Here’s what you need to know.
How Is Classic Congenital Adrenal Hyperplasia Treated?
Classic CAH is usually diagnosed shortly after birth during a newborn screening panel, which checks for different conditions. If you already have a child with classic CAH, there’s a 1 in 4 chance you’ll have another child who has it.
The most common form of classic CAH is caused by your child’s body not making enough of a substance called 21-hydroxylase. Their adrenal glands need it to make enough of certain hormones like cortisol and aldosterone. With classic CAH, the adrenal gland doesn’t make enough cortisol and makes more 17-hydroxylase and androgens than the body needs. It's rare, but CAH can also result from low 11-hydroxylase levels.
Whatever the cause, classic CAH is treated with steroids to replace key hormones. Higher doses are used to manage androgens. The two main steroids are:
Hydrocortisone. Babies born with CAH don’t make enough of the stress hormone cortisone, which helps regulate blood pressure, blood sugar, and energy levels.
Fludrocortisone. This medication helps replace aldosterone, a hormone needed to maintain your body’s salt and water levels, as well as blood pressure.
Treatment should begin as soon as possible. Most of the time, children with classic CAH do well on these medications. They may need more of them if their body is under a lot of physical stress because of illness, surgery, or injury.
It’s important to watch your child closely for symptoms of over- or undertreatment.
What Are the Signs of Overtreatment?
Your child’s growth slowing down is the most common sign of overtreatment. The average kid grows about 2 1/2 inches a year from the age of 2 until they hit puberty. They should gain 2 to 3 pounds for every inch they grow, too.
Your pediatrician will map your child on a growth chart to see where they are compared to other kids their age. They should stay in the same growth percentile throughout childhood and their teen years.
If your child gets more steroids than they need, their growth will slow down. This is a gradual change over time, usually three to six months. Weight gain is another clue. If your child puts on more than 3 pounds an inch, or more than 7 pounds a year, it may be due to overtreatment.
It’s important to watch for weight changes if your child’s doctor ups the dose. If your child gains more than 2 pounds two to four weeks after a dose change, it may be too high.
Other signs of overtreatment to look for include:
- High blood pressure
- Purple stretch marks (mainly on the belly, breast area, hips, and underarms)
- A round face
- High blood sugar
- Bone loss
What Are the Signs of Undertreatment?
The main sign of undertreatment with classic CAH is growing too quickly over a three- to six-month period. For example, a child normally in the 25th percentile for growth may shoot up to the 50th. Kids who get too low of a dose of steroids make more androgens, which are hormones that stimulate growth. This may lead to:
- Testicular tumors that can lower sperm count
- Dark or “dirty” knuckles
- Stomach pain
- Fatigue
- Acne
- Infertility
- Excessive and early body hair growth
- Testicular tumors in males
Early puberty is also possible. Anything that starts before the age of 7 in people assigned female at birth and the age of 9 in people assigned male at birth is may be cause for concern. Acne and excess facial and body hair can occur in children and adults with CAH, females can have irregular periods.
Tell your child’s doctor right away if you notice any of the above.
How to Monitor Your Child’s Treatment
The doctor will usually want to see them every three to four months for a physical exam and to check their blood pressure. Hormone levels are typically measured every three to six months. There are three ways this can be done:
Urine testing. This is considered the gold standard. It’s done throughout the day to measure the amount of androgens and creatine at different times. You’ll collect your child’s pee samples and take them to the doctor’s office or a testing lab.
Blood testing. Some of the hormones they may check for include:
- Androstenedione
- Testosterone
- 17 hydroxyprogesterone (17 OHP)
- ACTH, a hormone made by your pituitary gland.
Filter paper test. Blood tests can sometimes be misleading because they’re just a snapshot of your child’s hormone levels at one point during the day. Some doctors have people check their blood at home several times a day for more accurate results.
Similar to a finger stick that measures blood sugar levels in people with diabetes, you collect your child’s blood on a piece of filter paper at different times to check 17 OHP levels. It’s then sent to a laboratory. Ideally, your doctor will discover times of day when your child’s hormone levels are high and others where they are low. They’ll then adjust their medication dose to better match these natural rises and dips.
A bone age scan is another form of monitoring. An X-ray of your child’s left wrist, hand, and fingers is done once or twice a year. The image is then compared to images of many other kids who are the same gender and age. Your child will then be assigned a bone age.
If your child’s classic CAH is undertreated, their bone age will be older than their actual age. For example, a 6-year-old may have the bone age of a 9-year-old. If they’re overtreated, their bone age will be lower.
Takeaways
Classic CAH is mainly treated with steroid medications. These drugs work well, but they carry side effects that may affect your child’s development. The doctor will monitor them closely, ordering tests to make sure the treatment dosage is correct. It’s important to tell the doctor about signs of over- or undertreatment, such as early puberty, stretch marks, a sudden height or weight gain, or a fuller face. In addition to steroids to control excess androgens, if your child is 4 or older their doctor may also prescribe crinecerfont (Crenessity). This medication can lower their adrenal androgen output, and may result in them taking fewer steroids.
Show Sources
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SOURCES:
National Institute of Health: “How do healthcare providers diagnose congenital adrenal hyperplasia (CAH)?” “What are the treatments for congenital adrenal hyperplasia (CAH)?” “About Congenital Adrenal Hyperplasia.”
CARES Foundation: “Monitoring Treatment of Children.”
UptoDate: “Treatment of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in infants and children.”
Children’s Hospital of Philadelphia: “Congenital Adrenal Hyperplasia.”
