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Congenital Adrenal Hyperplasia

Adrenogenital Syndrome

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.
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 have another problem. They are born with genitals that look like somewhat like those of a boy. That's because they make too much male hormone.
In children of either sex, if CAH is not found and treated early, puberty can happen earlier than it is supposed to. This can cause the child to be shorter than expected because he or she stops growing too soon.
Is there a test for CAH? — Yes. Today most 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.
What can be done about abnormal genitals in girls? — Girls with abnormal genitals can 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 abnormal genitals, your doctor can put you in touch with a team of CAH experts. These experts can help you figure out what is best for your daughter. You will have to decide whether she should have surgery and, if so, when. These decisions can be hard. The people on the treatment team can help you 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.
If your daughter does not have surgery right away, you can still treat her as you would any daughter. Her genes and the organs inside her body are like those of any girl. 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 he or she is vomiting, or has fever or an infection
The child stops taking his or her 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 your child higher doses of the medicines he or she normally takes. In some cases, you might even need to give your child a shot and take him or her 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
Belly pain
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 his or her life. Still, treatment is effective, so most children with CAH have a fairly normal life.
Girls with CAH who have abnormal genitals often have to sort out how they feel about their appearance and identity. Some feel like they relate more to boys. Others feel like regular girls. Offer your daughter support, without judgment, as she figures this out.
All topics are updated as new evidence becomes available and our peer review process is complete.
This topic retrieved from UpToDate on: Mar 30, 2020.
Topic 16935 Version 8.0
Release: 28.2.2 - C28.105
© 2020 UpToDate, Inc. and/or its affiliates. All rights reserved.

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