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What is congenital adrenal hyperplasia? — Congenital adrenal hyperplasia ("CAH") is a genetic disorder that affects the adrenal glands. The adrenal glands are a pair of organs 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 a 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 all children, 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 taking pills containing the hormones that the adrenal gland does not make enough of. This includes:
●Medicines called "steroids" – These replace missing cortisol.
●A medicine called fludrocortisone (brand name: Florinef) – This replaces missing aldosterone. It also helps the body retain salt and keep blood pressure normal.
Having just the right amount of these medicines helps make sure that children grow normally and go through puberty at the right time. To figure out the right amount, the doctor will:
●Do blood tests every so often to check hormone levels
●Measure the child's growth
●Do X-rays 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 connect you 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 that you have a treatment team with a lot of experience in this area.
Whether or not your daughter chooses to have surgery, 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:
●Gets sick, especially if they are vomiting or have a fever or an infection
●Stops taking their medicine
●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 department. Do this right away to prevent an adrenal crisis.
An adrenal crisis usually starts 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 manage CAH. It is a lifelong 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 identify as girls, even if their genitals look different. But if your child 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.
Patient education: Normal puberty (The Basics)
Patient education: Early puberty (The Basics)
Patient education: Adrenal crisis (The Basics)
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