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 including:

• cortisol
• aldosterone (which helps to regulate salt levels in the body)
• 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.

• Classical CAH is the more severe form. Symptoms may start during infancy or early childhood. There are 2 types of classical CAH — salt-losing CAH and non-salt losing CAH.
• Non-classical CAH, or late-onset CAH, presents with milder symptoms. Symptoms usually start in adolescence or early adulthood.

What are the symptoms of congenital adrenal hyperplasia?

Female infants with classical CAH can be born with genitals (sex organs) that look more male than female. Other signs and symptoms of classical CAH in babies include:

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

Children and adults with either type of CAH may experience:

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

Adrenal crisis

At any age, people with CAH may experience an 'adrenal crisis'.

An adrenal crisis usually happens during times of physical stress, for example, if you have an injury that need stitches, if you have a broken bone or a significant illness. During an adrenal crisis, you may experience:

• feeling unwell
• weakness and fatigue
• vomiting
• low blood sugar
• low blood pressure

If you are at risk of an adrenal crisis, early treatment can help prevent it from occurring. If you or your child have CAH, talk to your doctor about making an emergency management plan, and consider wearing a medical alert bracelet.

How is congenital adrenal hyperplasia diagnosed?

If your infant or child has symptoms of CAH, your doctor will examine your child and may refer them for blood or urine tests to check their hormone levels.

How is congenital adrenal hyperplasia treated?

CAH can be managed with synthetic hormone medicines that are usually taken daily. Your endocrinologist (hormone specialist) will advise you about which hormones you need to take and how much. Most people with CAH will have regular specialist reviews and check-ups.

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 supports families with a diagnosis of CAH.

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

The Royal Children’s Hospital has a fact sheet about adrenal crisis prevention.

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

You can also call healthdirect on 1800 022 222 at any time to speak to a registered nurse (known as NURSE-ON-CALL in Victoria) for more information and advice.