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Congenital adrenal hyperplasia, or CAH, affects the adrenal glands.

Congenital adrenal hyperplasia, or CAH, affects the adrenal glands.
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Congenital adrenal hyperplasia

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Congenital adrenal hyperplasia is an inherited group of conditions that affect the body's hormone levels. People who have congenital adrenal hyperplasia may experience health problems, but with treatment, many can also enjoy a normal lifestyle.

What is congenital adrenal hyperplasia?

Congenital adrenal hyperplasia, or CAH, affects the adrenal glands. These glands, which sit above the kidneys, make hormones such as cortisol, aldosterone and androgens, which are male sex hormones. In many cases, a person who has CAH makes too many androgens and not enough cortisol and aldosterone.

CAH can affect the normal growth and development of a child, including normal growth of the genitals.

Types of congenital adrenal hyperplasia

There are two main types of CAH.

  • Classic CAH is the more severe form and is usually noticed during infancy or early childhood.
  • Non-classic CAH is the milder form and is usually noticed in adolescence or early adulthood.

Signs and symptoms of congenital adrenal hyperplasia

Girls with classic CAH can be born with genitals look more male than female. Other signs and symptoms of classic CAH in infants include:

Children and adults with either type of CAH can have:

  • rapid growth and early puberty, followed by shorter than average final height
  • irregular menstrual cycles
  • infertility
  • excessive facial or body hair, and a deep voice in females
  • acne, which can be severe

At any age, people with CAH are vulnerable to an 'adrenal crisis', in which they feel very ill, weak and tired, and start vomiting. They usually occur during times of physical stress.

An adrenal crisis can be prevented with early treatment, so it is important to be able to recognise the signs and see your doctor immediately.

Diagnosing congenital adrenal hyperplasia

If there are signs of possible CAH in your infant or child, your doctor will examine your child and may also order a blood or urine test to check hormone levels.

Living with congenital adrenal hyperplasia

CAH can be managed with medication. This includes taking synthetic cortisol every day to maintain hormones to a normal level.

Where to go for help?

You can read more about genetic disorders and about genetic screening.

Congenital Adrenal Hyperplasia Support Group Australia provides support and education to people affected by CAH and their families.

The CAH Family Workshop website is aimed at families with a diagnosis of CAH.

Last reviewed: August 2018

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