How to Care for Someone With Congenital Adrenal Hyperplasia

Reviewed by: HU Medical Review Board | Last reviewed: May 2024

Caring for someone with congenital adrenal hyperplasia (CAH) is difficult. A CAH diagnosis can feel overwhelming since it is a lifelong genetic condition without a cure. But with the right tools, treatment, and support, your loved one with CAH can expect to live a full life.1

The basics of congenital adrenal hyperplasia

CAH is a rare genetic disorder that affects the adrenal glands. The adrenal glands are responsible for making crucial hormones that regulate how our bodies function and impact how our bodies may look. But in people with CAH, a genetic mutation (change) disrupts this process. This can lead to a range of health issues.1

The most common form of CAH is 21-hydroxylase deficiency. This enzyme deficiency disrupts the normal production of the hormones, such as cortisol or aldosterone. Cortisol regulates metabolism and stress response, while aldosterone helps regulate blood pressure and salt balance.1,2

People with CAH are born with the condition. It may present itself at birth, or symptoms could be noticed later on in childhood or early adulthood. Oftentimes, caregivers are parents or guardians of a child with CAH.1,3,4

Challenges of a CAH diagnosis

One of the biggest challenges children and their caregivers face with CAH is hormonal imbalances, which can cause a number of health problems.1,2

CAH in infants

Typically, a CAH diagnosis is found through newborn screening or if there are any complications at birth or shortly after, such as:1-4

  • Adrenal crisis – This is a life-threatening condition that can occur within the first 2 to 3 weeks of life. This is due to very low levels of cortisol. If left untreated, it can result in failure to thrive, shock, or even a coma. Adrenal crisis is sometimes called salt-wasting crisis.
  • Female genitalia that looks different from what is typical – These differences are due to having too much of the hormone androgen in the body. Too much androgen production leads to female genitals looking more ambiguous and resembling male genitals.

For some female infants with CAH, reconstructive surgery to make external genitals look more typical may be performed. The surgery is usually done within the first 3 to 6 months of a baby’s life. This surgery is optional. It is a very personal family decision and should be taken seriously. Sometimes, parents will wait until their child with CAH is of the age when they can be involved in this decision. Talk to your child’s healthcare team about your options and what works for your family.5-7

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CAH in early childhood

Children growing up with CAH can face other health issues related to:2

  • Altered growth and bone development
  • Early puberty
  • Fertility problems later in life

Sometimes, over- or under-treated CAH can affect a child’s growth and weight. This is why regular doctor’s visits are essential to ensure they are growing and developing in a healthy way. Work with your child’s healthcare team to set up a schedule that works for you.3

Adrenal crisis is a complication that may arise without proper treatment. Adrenal crisis leads to symptoms such as vomiting, extreme weakness, and even loss of consciousness. To treat an adrenal crisis, you can give the person an injection of hydrocortisone, a kind of steroid, as soon as possible.1,2,8

Managing the condition throughout life

Most people with CAH will have to take hormone replacement therapy for the rest of their lives to replace the cortisol and aldosterone they are missing. This therapy helps maintain hormone levels within the normal range, which in turn reduces their risk of complications like adrenal crisis or low blood sugar (hypoglycemia).2,4

Managing CAH involves a combination of:2,4

  • Regular health check-ups with their doctors
  • Making sure they take their medicine as prescribed
  • Monitoring hormone levels
  • Being prepared for any emergency situations
  • Lifestyle changes to ensure good overall health
  • Staying up-to-date on vaccines

Be prepared for emergency situations

In cases of emergency situations such as adrenal crisis or low blood sugar, have an emergency kit ready. This kit should include:8

  • Hydrocortisone emergency injection for adrenal crisis, along with clear instructions on dosage and how to give the medicine
  • Glucose tablets to quickly raise blood sugar in cases of low blood sugar
  • A list of emergency contacts, including healthcare providers and family members
  • A medical ID bracelet or necklace indicating the child's condition
  • A written action plan detailing steps to take in case of emergency

The importance of open communication

If you are a parent or caregiver of a child with CAH, there may come a time when you need to share the child’s diagnosis with them. This requires careful consideration regarding their maturity and whether they are ready to handle medical concepts.7

Approach the conversation openly and honestly. This builds trust and understanding. Use age-appropriate language so your child understands their condition without overwhelming them.8

Do your best to create a safe and supportive environment where your child feels comfortable discussing their condition, concerns, and questions openly with you. If your child asks a question that you cannot answer right away, it is okay to tell them, “I don’t know the answer to that. Let me call the doctor and find out.” This can be helpful even if you need to buy a little time to think over your response to a tricky question.4,5,8

Be as transparent as possible. This transparency helps children feel valued and involved in their own care. It will help them feel empowered and proactive, and advocate for their medical needs as they get older.4,5,8

You are not alone

Being a caregiver of someone with CAH can feel overwhelming. Not only is the condition rare – meaning there is less information available – but finding the right healthcare team to treat CAH may also be more difficult.4

Caregivers need to prioritize self-care and seek support when needed. Remember, you cannot give from an empty cup. Consider personal therapy or family counseling to help cope with the stress, anxiety, and feelings of isolation that often come with caregiving.

Connecting with other families affected by CAH can provide emotional support, practical advice, and a sense of belonging. Ask your or your child's healthcare team about available support groups, online forums, or community organizations you can join.

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