If your newborn has been diagnosed with classic congenital adrenal hyperplasia (CAH), you may have a lot of questions about the condition, especially when it comes to treatment.
Unlike nonclassic CAH, classic CAH must be treated right away, says Deborah Merke, MD, chief of the Department of Pediatrics and head of the Section on Congenital Disorders at the National Institutes of Health Clinical Center.
“The condition is almost always picked up within several days of birth as part of each state’s neonatal screening program,” says Merke.
Treatment needs to start as soon as possible to avoid adrenal crisis. That’s a life-threatening condition where the adrenal glands don’t make enough cortisol and aldosterone. But with care comes challenges. Here’s a closer look at your options, along with tips on how to make the best decisions for your child as you work closely with their medical team.
Navigating Corticosteroids
The mainstay of classic CAH treatment is a class of steroids known as glucocorticoids and mineralocorticoids. They replace the hormones your child can’t make on their own. The treatment involves hydrocortisone to replace the hormone cortisol and fludrocortisone to replace aldosterone. Infants are given salt supplements until they’re old enough to get it from table food.
"Although there are some long-term negative effects from glucocorticoid treatment, the benefits of treating CAH, a potentially life-threatening disease, outweigh the risks of this necessary treatment," says Phyllis Speiser, MD, emeritus chief of pediatric endocrinology at Cohen Children's Medical Center in New York City. "Hopefully, as newer treatments become available these concerns will decrease."
Merke recommends asking your child’s doctor these questions:
Is this dose of hydrocortisone considered high? “One way we ideally manage patients is to try not to give them too much of a replacement of hydrocortisone,” says Merke. This helps limit potential long-term side effects like stunted growth. The typical starting dose for newborns is 2.5 milligrams three times a day. That’s lowered once your child reaches target hormone levels, says Merke.
How many people with classic CAH do you see? Since it’s a rare disease, it’s important to choose a pediatric endocrinologist who has specific experience in the area. “The management of classic CAH is complicated, because there’s a delicate balance between giving too much medication and too little,” says Merke. In addition to stunted growth, too much hydrocortisone can lead to:
- Obesity
- High blood pressure
- Low bone mineral density
But undertreatment is dangerous, too.
What is stress dosing? Your child’s recommended daily medication schedule may change if there is:
- Illness
- Surgery
- Vomiting
- Diarrhea
Their medical team should let you know when and how to give a stress dose.
How often will you need to follow up? Your child will need a lot of bloodwork to make sure their treatment dose isn’t too high or low. “In the first year of life, because they’re more vulnerable to adrenal crisis, we like to see babies at least every 3 months,” says Merke. After that, visits may drop to two or three times a year.
What About Surgery?
If your child was assigned female at birth, genital reconstructive surgery is a topic the doctor will likely bring up. With classic CAH, your baby was exposed to excess amounts of androgens – a type of male sex hormone – in the womb, says Merke. This can change how her genitals developed. She may have a:
- Large clitoris (the tissue at the front of her vulva)
- Fused, or connected, labia (the tissue that surrounds the opening of her vagina)
- A fused or connected vagina and urethra (the tube that carries pee out of her body)
Any of the above can cause complications like repeat urinary tract infections (UTIs). They may make it difficult or stop your daughter from having vaginal sex as an adult. The doctor can refer you to a pediatric urologist or surgeon to learn about surgical options if you’re interested.
“Years ago, doctors used to think it was an emergency, and that babies should have surgery between 4 to 6 months,” says Merke.
Over the years, patient advocates for children assigned female a birth with CAH have argued that parents should wait until later in life. That way, their child is old enough to take part in the decision-making. But there may be some advantages to surgery at around 4 to 6 months, says Speiser. Infants often still have more estrogen from their mothers, so their tissues heal faster. They also won’t remember the operation.
There are concerns that anesthesia may hurt the brains of babies or very young children. But research suggests most kids do just fine.
“If your baby gets repeated UTIs, or their urinary flow is blocked, you shouldn’t hesitate to get them surgery,” says Speiser.
Otherwise, you can wait.
“It’s a decision parents should make in conjunction with their child’s medical team,” says Speiser. “Anecdotally, I will say most patients and their families are happiest when they have the surgery done when they’re young, since the baby doesn’t remember being hospitalized. It can be more traumatic for a teen to undergo the surgery.”
It’s a good idea to get a second opinion before you schedule your child’s surgery, says Merke. If you do decide to move forward, make sure that the operation is done at a children’s hospital or medical center with very experienced pediatric surgeons, says Merke.
Look for a children’s hospital that’s labeled a center of excellence. The CARES Foundation also has a list of recommended centers here.
Looking to the Future
A new treatment, crinecerfont (Crenessity), was recently approved by the FDA. It won’t replace corticosteroids, but it could mean smaller doses. These drugs are known as CRF1 receptor antagonists. Others are in the works.
“They block a substance called corticotrophin-releasing factor type 1, which controls stimulation of the adrenal gland,” says Merke.
Another promising option is gene therapy. People with classic CAH don’t make enough of the enzyme 21-hydroxylase. That’s an enzyme your body needs to make cortisol and aldosterone. A mutation, or change, in a gene is what causes the problem. Gene therapy uses a virus to deliver working copies of the gene so the adrenal glands can make 21-hydroxylase. Merke says they’re currently studying the effects in adults with classic CAH.
“It would be the only way to cure the disease, because it would allow the adrenals to make cortisol themselves, instead of adding on medications,” says Merke.
Show Sources
Photo Credit: Maskot/Getty Images
SOURCES:
Deborah Merke, MD, chief of the Department of Pediatrics and head of the Section on Congenital Disorders, National Institutes of Health Clinical Center, Bethesda, MD.
Phyllis Speiser, MD, emeritus chief of pediatric endocrinology, Cohen Children's Medical Center, Queens, NY.
Journal of Clinical Endocrinology and Metabolism: “Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.”
UpToDate: “Treatment of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency in Infants and Children.”
