Diagnosis

Congenital adrenal hyperplasia (CAH) may be diagnosed before a baby is born, shortly after birth, during childhood or later in life.

Prenatal testing

Tests used to identify CAH in fetuses who are at risk for the disorder include:

  • Amniocentesis. This procedure involves using a needle to withdraw a sample of amniotic fluid from the womb and then examining the cells.
  • Chorionic villus sampling. This test involves withdrawing cells from the placenta for examination.

Tests to confirm the diagnosis of CAH are done after the baby is born.

Newborns and infants

In the United States and many other countries, routine screening of all newborns for genetic 21-hydroxylase deficiency is recommended during the first few days of life. This test identifies the classic form of CAH but doesn't identify the nonclassic form.

In female infants who have severe atypical genitalia, tests can be done to analyze chromosomes to identify genetic sex. Also, pelvic ultrasound can identify the presence of female reproductive structures such as the uterus and ovaries.

Children and young adults

Diagnosis of CAH in children and young adults includes:

  • Physical exam. Your health care provider will do a physical exam, check your child's blood pressure and heart rate, and review symptoms to identify possible CAH. The next step is to confirm the diagnosis with blood and urine tests.
  • Blood and urine tests. These tests look for hormones produced by the adrenal glands at levels outside the standard ranges. The tests also check the levels of electrolytes. These are minerals such as sodium that balance the amount of water in the body.
  • Genetic testing. Genetic testing may be needed to diagnose CAH.

Treatment

Your health care provider will likely refer your child to a specialist in childhood hormonal issues (pediatric endocrinologist) for treatment of CAH. The health care team may also include other specialists, such as a urologist, psychologist, gynecologist and geneticist.

Treatment may include medications, reconstructive surgery and psychological support.

Medications

The goal of treating CAH with medications is to reduce excess androgen production and replace deficient hormones. People who have the classic form of CAH can successfully manage the condition by taking hormone replacement medications throughout their lives.

People who have nonclassic CAH may not require treatment or may need only small doses of corticosteroids.

Medications for CAH are taken daily. During periods of illness or significant stress, such as surgery, additional medications or higher doses may be needed.

Medications may include:

  • Corticosteroids to replace cortisol
  • Mineralocorticoids to replace aldosterone to help retain salt and get rid of excess potassium
  • Salt supplements to help retain salt

Monitoring the effectiveness of medication includes regularly scheduled:

  • Physical exams. The health care provider will check your child's growth and development, including monitoring changes in height, weight, blood pressure and bone growth. Assessing health at regular visits is lifelong.
  • Monitoring for side effects. The health care provider will monitor for medication side effects, such as the loss of bone mass and impaired growth, particularly if steroid-type replacement medication doses are high and used long term.
  • Blood tests to check hormone levels. It's critical to have regular blood tests to ensure that hormone levels are balanced. Children who haven't yet reached puberty need enough cortisone to suppress androgens to grow to a typical height. For females who have CAH, it's important to suppress androgens to minimize unwanted masculine characteristics. On the other hand, too much cortisone can cause Cushing syndrome.

Wearing a medical identification tag can help provide appropriate treatment if there's an emergency.

Reconstructive surgery

In some female infants who have severe atypical genitalia because of classic CAH, health care providers may recommend reconstructive surgery to improve genital function and provide a more typical appearance.

Surgery may involve reducing the size of the clitoris and reconstructing the vaginal opening. The surgery is typically performed between 2 and 6 months of age. Females who have reconstructive genital surgery may need more cosmetic surgery later in life.

Genital surgery is easier to perform when a child is very young. However, some parents choose to wait for surgery until their child is old enough to understand the risks and choose the gender assignment.

Before making decisions about the best treatment approach for your child, talk with your health care provider about these issues. Working together, you and your provider can make informed choices that will help your child thrive.

Psychological support

Psychological support is important to the emotional health and social adjustment of children and adults who have CAH.

Research

Prenatal treatment with synthetic corticosteroids that cross the placenta to the fetus are controversial and considered experimental. More research is needed to determine the long-term safety and the effect of this treatment on fetal brain development.

Coping and support

Early and steady support from family and health care professionals can help your child have healthy self-esteem and a satisfying social life. These approaches may help:

  • Include psychological counseling in your child's treatment plan as needed
  • Seek help from a mental health professional if you're having trouble coping and to help you develop healthy parenting strategies

Preparing for your appointment

You may start by seeing your family health care provider or your child's pediatrician. Your provider may refer you to a specialist trained in the diagnosis and treatment of conditions related to the adrenal glands (pediatric endocrinologist).

Here's some information to help you prepare for your appointment. Consider taking a family member or friend along for support and to help you remember information.

What you can do

To prepare for your appointment:

  • Find out if your child needs to follow any pre-appointment restrictions, such as changing food or liquid intake to get ready for blood and urine tests.
  • Make a list of any signs and symptoms your child has been experiencing, and for how long.
  • Make a list of your child's key medical information, including recent illnesses, any medical conditions, and the names and dosages of any medications, vitamins, herbs or other supplements.
  • Prepare questions you want to ask your health care provider.

Some basic questions to ask may include:

  • What is likely causing my child's signs and symptoms?
  • Are there other possible causes for these symptoms?
  • What kinds of tests does my child need?
  • What treatment approach do you recommend?
  • What are the expected results of treatment?
  • What are the possible side effects of treatment?
  • How will you monitor my child's health over time?
  • What is my child's risk of long-term complications?
  • Do you recommend that my child receive psychological counseling?
  • Do you recommend that our family meet with a genetic counselor?

Don't hesitate to ask any other questions during your appointment.

What to expect from your doctor

Your health care provider is likely to ask you a number of questions, such as:

  • What are your child's symptoms?
  • When did you first begin noticing these symptoms?
  • Has anyone in your family been diagnosed with congenital adrenal hyperplasia? If so, do you know how it was treated?
  • Are you planning to have more children?

Be ready to answer questions to reserve time to go over points you want to focus on.