(CAH) Profesional Brochure

Congenital Adrenal Hyperplasia (CAH)

Virginia Newborn Screening Services

Shortly after your child's birth, he/she was tested for eight diseases that can be found at birth. Virginia State law requires the tests.

All of the conditions that your baby was tested for can cause serious health problems. In some cases, the conditions can cause death.

It is very important to find babies with these conditions as early as possible so that treatment can begin quickly.

 

CAH Screening Test

Your baby's test for Congenital Adrenal Hyperplasia (CAH) found that your baby might have CAH.

This does not mean that your child has CAH. More testing is needed to see if your baby has CAH.

What Is CAH?

CAH stands for congenital adrenal hyperplasia (con-GEN-i-tle ah-DRE-nal HY-per-PLA-se-a).

CAH is a condition that occurs when the body cannot make any or enough of two hormones (chemicals) called cortisol and aldosterone. These hormones are needed for normal body function and growth.

How Did My Child Get CAH?

In order for a child to have CAH, both parents must be CAH carriers. This means that each parent has a CAH gene that was passed on to his or her child who has CAH.

With each child of the same two carrier parents, there is a:

1 in 4 chance that the baby will have CAH.

1 in 4 chance that the baby will not have the CAH gene.

2 in 4 chances that the baby will be like the parents and be a carrier of the CAH gene. This is called having a trait for CAH.

What Can CAH Do To My Child?

CAH can cause a wide range of symptoms and health problems. In its most severe form, which is called classic CAH, the body cannot make the needed hormones.

If a baby cannot make enough cortisol, the baby cannot balance their blood sugar levels. When this happens, the baby does not have enough energy for the body to work correctly. Cortisol is also called the stress hormone because the body makes more of it when it is under stress, such as an injury or illness.

If the baby cannot make aldosterone, too much salt is lost in their urine. This can result in severe dehydration and even death. This kind of CAH is known as salt-wasting.

Making some of the needed hormones is better than making no hormone. Your baby's doctor will perform tests to identify the type of CAH.

If a baby has CAH, sometimes their body makes too much of others hormones called androgens.

In girl babies, too many androgens sometime make their genitals (privates) look like a boy's genitals. Surgery may be needed to correct this problem.

In boy babies, too many androgens may cause them to become ill very quickly.

How Can CAH Be Treated?

Once the baby is completely tested by the hormone specialist (pediatric endocrinologist), a plan for treatment will be discussed with you.

It is very important for you to understand the treatment plan for your baby. Feel free to ask questions about your baby's condition and care.

Treatment for CAH consists of providing the missing hormones to your baby in just the right amounts to help their body work and grow normally.

Be patient, it may take some time before the exact combination and dose of hormones that your baby needs are found.

How Long Will My Child Need To Take The Hormones?

Because your baby's body is not able to make these needed hormones, it will be necessary for your child to take the hormones all their life.
As your child gets older, the type and dose of the hormones will be adjusted to meet their body requirements.

How Will CAH Affect My Child’s Life?

When CAH is identified and treated early in a child's life, normal growth and development are expected.

Long-term treatment is necessary, but there are thousands of people with CAH who are leading normal lives.

If you have other questions about CAH or other disorders screened by Virginia Newborn Screening Services, please contact:

Virginia Department of Health
Virginia Genetics Program
1-800-523-4011
www.vahealth.org/genetics

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