What is congenital adrenal hyperplasia?

Congenital adrenal hyperplasia, or CAH, is an inherited group of conditions that affects the adrenal glands. These glands, which sit above the kidneys, make hormones such as cortisol, aldosterone (which helps to regulate salt levels in the body) and androgens (male sex hormones). In many cases, a person who has CAH makes too many androgens and not enough cortisol and aldosterone.

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

What are the types of congenital adrenal hyperplasia?

There are 2 main types of CAH.

• Classic CAH is the more severe form and is usually noticed during infancy or early childhood. There are 2 types of classic CAH — salt-losing CAH and non-salt losing CAH.
• Non-classic CAH, or late-onset CAH, is the milder form and is usually noticed in adolescence or early adulthood.

What are the signs and symptoms of congenital adrenal hyperplasia?

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

• an enlarged penis for boys
• poor weight gain or weight loss
• dehydration
• vomiting

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.

An adrenal crisis usually occurs during times of physical stress.

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

How is congenital adrenal hyperplasia diagnosed?

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 at a normal level.

Resources and support

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.

The Australian Paediatric Endocrine Group has produced a booklet about congenital adrenal hyperplasia.

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