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Patient education: Congenital adrenal hyperplasia (The Basics)

Patient education: Congenital adrenal hyperplasia (The Basics)

What is congenital adrenal hyperplasia? — Congenital adrenal hyperplasia, also called CAH, is a genetic disorder that affects a pair of organs in the body called the "adrenal glands." The adrenal glands are located just above the kidneys (figure 1). They make a lot of different hormones.

There is more than 1 type of CAH. This article is about the most common type, called "classic CAH." Classic CAH is usually diagnosed soon after birth. There are different forms of classic CAH, but they all have similar symptoms and treatment.

In classic CAH, 3 main hormones can be out of balance:

Cortisol – This hormone helps control how the body uses sugar and fat for energy. It also helps the body manage stress. People with classic CAH usually make too little cortisol.

Aldosterone – This hormone helps control the amount of salt and fluid in the body. People with classic CAH often make too little aldosterone.

Androgens – Androgens are also known as "male hormones." One important androgen is testosterone. Both men and women have testosterone. People with classic CAH generally make too much of these hormones.

What are the symptoms of CAH? — The symptoms are different depending on:

How severe the condition is

Whether the person with CAH is male or female

Babies with severe CAH do not make enough aldosterone or cortisol. This can cause a serious condition called "adrenal crisis," which makes babies very sick. Babies with adrenal crisis have low blood sugar and low blood pressure, and they do not gain weight as they should.

Girls with CAH are usually born with genitals that look like those of a boy. Doctors call this "atypical genital appearance." It happens because the body makes too much male hormone.

In both girls and boys, if CAH is not found and treated early, puberty can start earlier than it is supposed to. This can cause the child to be shorter than expected because they stop growing too soon.

Is there a test for CAH? — Yes. Newborn babies in the US and many other countries have a blood test to check for classic CAH. The test is done as part of the routine newborn screening tests.

How is CAH treated? — The main treatment is pills that contain the hormones that the adrenal gland does not make enough of. This includes:

Medicines called "steroids," which replace missing cortisol. These are not the same as the steroids some athletes take illegally.

A medicine called fludrocortisone (brand name: Florinef), which replaces missing aldosterone. This medicine also helps the body retain salt and keep blood pressure normal.

Having just the right amount of these medicines is very important in making sure that children grow normally and go through puberty at a right time. The doctor will decide on the right amount of hormone pills by:

Doing blood tests every so often to check hormone levels

Measuring the child's growth

Doing X-ray studies once in a while to check how the bones are growing

Some children with CAH also need to take salt tablets or eat extra salt. As they get older, they can often stop taking these extra sources of salt if the doctor says that it is safe to stop.

Are there treatments for atypical genital appearance? — Girls with "atypical" genital appearance can choose to have surgery to make them look more like girls without CAH. But surgery is not always needed, and it does not need to happen right away.

If your daughter has atypical genital appearance, your doctor can put you in touch with a team of CAH experts. These experts can talk with you about the options for surgery. Many experts recommend waiting until your child is old enough to be involved in deciding whether and when to have surgery. These decisions can be hard. The people on the treatment team can help you and your child understand your choices and the pros and cons of each option. Make sure you have a treatment team with a lot of experience with this type of problem.

Whether or not your daughter chooses to have surgery, you should still treat her as you would any child, and support her decision. Even though her genitals might look different, her genes and the organs inside her body are like those of any female. With the right treatments, she should be able to get pregnant someday, if she wants to.

Are there problems I should watch for? — Yes. Children with CAH sometimes have a serious problem called "adrenal crisis." This can happen if:

The child is sick, especially if they are vomiting or have fever or an infection

The child stops taking their medicine

The child has surgery

Your child's doctor will tell you what to do if your child gets sick. If your child has a high fever or is vomiting, you might need to give them higher doses of the medicines they normally take. In some cases, you might even need to give your child a shot and take them to the emergency room. It is important to do this right away to prevent an adrenal crisis.

An adrenal crisis usually comes on suddenly. The symptoms of an adrenal crisis can include:

Loss of appetite

Vomiting

Belly pain

Weakness

Fever

Confusion

Passing out

What will my child's life be like? — Your child will need help and support to understand and cope with CAH. It is a life-long condition, so your child will need to take medicines for the rest of their life. Still, treatment is effective, so most children with CAH have a fairly normal life.

Girls with CAH who have atypical genital appearance often have to sort out how they feel about their body and identity. "Gender identity" is how a person feels inside, and whether they identify as a girl or boy, or neither, or both. Many girls with CAH feel like typical girls, even if their genitals look different. But if your daughter does not identify this way, you can help by offering support without judgment.

If your child is struggling with their body or their gender identity, talk to their doctor or nurse. They can help you figure out how best to support your child.

More on this topic

Patient education: Normal puberty (The Basics)
Patient education: Early puberty (The Basics)
Patient education: Adrenal crisis (The Basics)

This topic retrieved from UpToDate on: Jan 01, 2023.
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