It can be overwhelming to learn through newborn screening that your baby has congenital adrenal hyperplasia (CAH). After all, there’s a lot to learn about the condition, and understanding the details is key to your baby’s health and growth. You need a way to get up to speed quickly on symptoms, treatments, and more, so you can make sure your child has everything they need.

Here are the basics you need to know to help your baby thrive. This article can also help you have informed conversations with your child’s doctors so your child can get the best care possible.

Treating CAH means balancing hormone levels. This includes stopping or slowing down production of some excess hormones while supplementing others that the body doesn’t make enough of. Because the body can’t balance these hormones on its own, many babies diagnosed through newborn screening will need lifelong medication.

It is parents’ role to make sure children with CAH get the medications they need. As your child grows older, you’ll help them begin taking responsibility for their own medication and healthcare as they move toward adulthood.

Treatment Needs Change Over Time

Your child with CAH will need regular testing and monitoring as they grow. Their treatment plan and needs will change over time, so follow-up appointments are important to make sure they’re getting what they need.

Keeping track of these appointments and getting any required blood tests before you go in will help ensure your child’s doctor has the information they need to make good recommendations.

If your child is diagnosed with the classic form of CAH, your endocrinology team will likely tell you to look out for physical stressors. Various circumstances can influence your child’s hormone balance, and at these times, your child may need a higher dose of medication called a stress dose. Common physical stressors include illness or injury. Surgery is another potential cause of extra stress.

The body needs more of the hormone cortisol when it’s physically stressed. People with CAH can’t make extra cortisol, so they’re at risk for a complication called an adrenal crisis when they get sick or hurt. Your child’s endocrinologist will give you a stress dose regimen or additional medication to give your child if they’re under stress.

Stress doses are usually given orally. If a child cannot swallow the medication or needs emergency treatment, the dose may be given as an injection instead. Learning how and when to give these stress doses can help keep your child safe and healthy.

As mentioned above, an adrenal crisis can happen when your child’s body is under significant stress and doesn’t have the hormones (like cortisol or, in some cases, aldosterone) it needs to manage that stress. In children, an adrenal crisis may look like:

• Gastrointestinal symptoms, like repetitive vomiting, nausea, diarrhea, lack of appetite, or a stomach ache
• Tiredness or weakness with no explanation
• Dizziness, especially when standing up
• Appearance as if about to lose consciousness

If it’s not treated, an adrenal crisis can be serious and potentially life-threatening. It can cause extremely low blood pressure, which can lead to shock. That’s why it’s important to catch it early and give your child their stress doses as rapidly as possible.

Who’s at Risk for Adrenal Crisis?

Adrenal crises are more common when your child’s body is under physical stress, which can include illness or trauma. Not everyone with CAH will experience an adrenal crisis. Adrenal crises aren’t typically associated with nonclassic CAH. They are most common in people diagnosed with classic CAH.

Your child’s healthcare provider will be able to tell you more specifically what to look for and how to treat an adrenal crisis if it happens. This includes giving an emergency injection of hydrocortisone and going to the emergency room.

Parents may also need to watch for a salt-wasting crisis. This is a type of adrenal crisis where your child loses too much salt (and water) through their urine. A salt-wasting crisis happens when the body does not make enough aldosterone, a hormone that helps keep the right amount of salt and water in the body.

It is especially important for individuals with salt-wasting CAH to take additional salt and fluids when ill and when they are outside in hot weather for longer periods of time.

Symptoms of a salt-wasting crisis include:

• Dehydration
• Dizziness
• Headache
• Fatigue
• Low blood pressure
• Vomiting, especially repetitive vomiting
• Shock
• High levels of acid in the blood
• Problems with the heart’s rhythm
• Poor appetite
• Diarrhea
• Low blood sugar levels
• Loss of consciousness

If you notice these symptoms, it’s important to get emergency medical attention for your child. Intravenous treatments (hormone, fluid, and salt replacements) can save the life of a person in a salt-wasting adrenal crisis.

Your child will do best with CAH when they have a team of specialists coordinating their care. Their primary doctor for CAH will be a pediatric endocrinologist, a type of doctor who treats hormone problems in children. They will typically work with a specialized nurse. At some point, your child’s team may also include:

• A dietitian
• A genetic counselor
• A urologist (specialist in the reproductive and urinary systems)
• A psychologist
• An adolescent gynecologist
• A dermatologist

Your child’s care team will be able to help them transition their care from pediatric specialists to adult specialists once they’re older. Finding medical professionals who have experience working with CAH can help ensure that your child always has the care they need as they grow and develop. This may involve seeking care or a second opinion at a larger center dedicated to CAH.

Different types of CAH can have different symptoms depending on how well the child’s CAH is controlled. In addition, males and females can have different symptoms, and some symptoms might not show up until your child is older.

The more severe CAH is, the more symptoms your child might experience, depending on how well their hormones are managed. When hormones are not well controlled, children with classic CAH may experience:

• Early signs of puberty
• Faster growth
• Short final height as an adult
• Irregular menstrual periods in females
• Benign testicular lesions in males

Nonclassic CAH is generally mild. Children with more pronounced symptoms tend to be diagnosed earlier, while many people with nonclassic CAH are not identified until adolescence or adulthood. Some symptoms may be different, while others are similar to those seen in classic CAH. As your newborn grows up, nonclassic CAH can show up as:

• Early puberty
• Fast growth
• Early development of pubic and/or underarm hair
• Excess facial hair
• Irregular periods in females (adolescents or adults)
• Infertility in adults

Your child’s healthcare team can give you more details about the symptoms you need to look for based on their condition, their sex, and other factors.

Get in touch with the care team if you notice any new or worsening symptoms. Staying on top of symptoms can help make sure your child always has the support they need to manage CAH.

Talking to other parents of children with CAH can provide support and help you feel better prepared. You can meet others at CAHteam or other online communities, or look for in-person support groups near you.

Caring for a child with a chronic illness can be stressful. It helps to be reminded that you’re not alone and that your child can have a happy, healthy life with CAH.

Support is key, whether you find it with CAH caregiver groups, your family and friends, a church or spiritual community, a mental health counselor, or all of the above.

Join the Conversation

On CAHteam, people share their experiences with congenital adrenal hyperplasia, get advice, and find support from others who understand.

What advice would you share with parents of a newborn diagnosed with CAH? Let others know in the comments below.