Congenital adrenal hyperplasia (CAH) is an inherited condition that affects how the adrenal glands make hormones. The glands may not make enough cortisol and aldosterone. Many people with CAH need lifelong care.

Classic CAH is typically diagnosed shortly after birth. People with this form don’t make enough cortisol and may also lack aldosterone. Nonclassic CAH is usually diagnosed later in childhood or even adulthood. In this form, the body usually produces enough cortisol and aldosterone but makes an excess of androgens (also called male sex hormones).

No matter which form of CAH you or your child has, it’s important to find the right team of professionals to get the care you need. In this article, we’ll cover who might be on your care team, what kinds of tests to expect, and how your treatment might change over time.

What Kind of Doctors Provide Care for Congenital Adrenal Hyperplasia?

The primary healthcare provider on your CAH care team will be an endocrinologist. Endocrinologists specialize in problems with hormones, including those affected in CAH. These healthcare professionals prescribe medications and monitor growth and development. They can also help you coordinate care for health problems related to CAH. Children usually see pediatric endocrinologists, whereas adults see providers who take care of people over 18.

Your main doctor for CAH is usually an endocrinologist, a specialist who treats hormone-related conditions.

It’s important to see an endocrinologist right away if CAH is diagnosed or suspected. After the first visit, most adults visit their endocrinologist once or twice a year unless new symptoms develop. Children may need appointments more often, depending on how fast they’re growing, whether they’ve started puberty or are going through it, and how they respond to medications. For instance, babies are often seen at least every three months. Keep all recommended appointments so you can get the care you need.

Communicating openly with your endocrinologist is key. Report any new or changing symptoms and medication side effects. This helps your doctor adjust your treatment plan effectively.

Other Professionals for CAH

Depending on your needs, your care team may include specialists such as these:

• Gynecologist — For questions about the female reproductive system
• Urologist — For issues with the genital and urinary tract or to discuss genital reconstructive surgery
• Geneticist or genetic counselor — To explain how CAH is inherited and whether it might affect future children or other family members
• Dermatologist — For unwanted hair growth or acne caused by CAH
• Nutritionist or dietician — For support with body weight, salt intake, or bone health
• Psychologist or social worker — For help managing the stress and challenges of having a chronic condition

Coordinating care with several providers can be stressful. If you live in an area with few medical resources, it may be hard to find CAH specialists. Your endocrinologist can connect you with resources and referrals to help you build a CAH team that meets your needs.

Monitoring and Testing for Congenital Adrenal Hyperplasia

Living with CAH means living with ongoing monitoring and testing. Children diagnosed with classic CAH usually need glucocorticoid medications for life, and some also need an aldosterone replacement. Treatment needs may change during stressful periods. People with nonclassic CAH may or may not need medication, depending on their hormone levels.

The right dose depends on both symptoms and lab results. Too much or too little medication can cause problems, so regular testing is important. Your doctor may order regular tests to check levels of certain hormones, including:

• Androstenedione
• 17-hydroxyprogesterone
• Testosterone

If you or your child has a form of classic CAH that affects salt balance, your doctor may also check renin, a hormone that helps regulate blood pressure. The test results will tell your endocrinologist whether treatment or salt intake needs adjusting.

You’ll need regular testing to make sure your hormone levels are balanced and you're not getting too much or too little CAH medication.

Your endocrinology team will also watch for complications related to CAH. These tests are more common in people with classic CAH, but some endocrinologists also use them for people with the nonclassic form. Monitoring may include:

• Growth rate
• Signs of puberty
• Blood pressure
• Menstrual cycles
• Bone density
• Body weight
• Acne
• Male-pattern hair growth
• Bone age
• Insulin resistance
• Sperm count

Monitoring may require additional tests, especially if your doctor suspects a complication. It’s important to get all recommended testing and follow instructions for when and how to have it done.

How CAH Care Might Change Over Time

Over time, CAH care can change. Because CAH is tied to hormones, care often looks different during puberty. This stage of development may start earlier than usual for children with CAH. If you notice early signs of puberty, such as rapid growth or milestones associated with puberty, talk with your endocrinologist.

CAH can also affect fertility. If you plan to start a family, you may need additional support. Infertility specialists or reproductive endocrinologists can help you navigate these challenges.

You may need extra testing or doctor appointments to help manage your CAH treatment during times of stress and transition.

Times of stress, such as illness, injury, or trauma, may increase your body’s need for cortisol. If you’re taking medication for CAH, ask your endocrinologist about stress dosing.

As children grow up, they eventually move from pediatric specialists to doctors who care for adults. Your pediatric care team can guide you through this process. If your child is close to adulthood, ask their endocrinologist about the next steps in moving to adult care.

Find a Team You Can Trust

Taking the time to find a care team you trust can help you or your child manage CAH well over the long term. Whether you’re living with classic or nonclassic CAH, starting with an endocrinologist you’re comfortable with is a good first step.

Being honest with your doctors helps them understand what’s going on and choose the best treatment for CAH.

Join the Conversation

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Which specialists are on your CAH management team? Let others know in the comments below.