SummaryRead the full fact sheet
- The newborn bloodspot screening test, which is available to all newborns, can detect whether a child has congenital adrenal hyperplasia (CAH).
- CAH can affect a child's normal growth and development, including normal growth of the genitals.
- Symptoms of CAH vary from person to person and may be managed with adrenal hormone supplements.
- If left untreated, CAH can be fatal to newborns.
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What is congenital adrenal hyperplasia (CAH)?
Congenital adrenal hyperplasia (CAH) is a group of rare genetic conditions that affects the adrenal glands. These glands make hormones such as cortisol, aldosterone (which helps to regulate salt levels in the body) and androgens (male sex hormones).
Newborns with CAH lack enzymes required to make these hormones, which can result in very low cortisol and salt levels, and dangerously high potassium levels.
CAH can affect a child's normal growth and development, including normal growth of the genitals. If left untreated, newborns can become extremely unwell and may die suddenly in the early weeks of life.
Newborns with CAH are often misdiagnosed, as the presentation of CAH can be attributed to other more common conditions.
Types of congenital adrenal hyperplasia
There are 2 main types of CAH:
- Classic CAH – the more severe form, 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 – the milder form, usually noticed in adolescence or early adulthood (this type of CAH is not screened for as part of the Newborn Bloodspot Program).
Signs and symptoms of congenital adrenal hyperplasia
The effects of CAH vary significantly from person to person, depending on the type of CAH.
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
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
- 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.
Diagnosis of congenital adrenal hyperplasia
The newborn bloodspot screening test, which is available to all newborns, can detect whether a child has CAH.
Treatment for congenital adrenal hyperplasia
CAH can be managed with adrenal hormone supplements.
This may include taking synthetic cortisol every day to maintain hormones at a normal level.
Where to get help
• Your GP (doctor)
• Victorian Clinical Genetics Services Tel. 1300 118 247
• Genetic Support Network of Victoria Tel. (03) 8341 6315
- Newborn bloodspot screening, Victorian Clinical Genetics Services.
- Newborn bloodspot screening – Tests to protect your baby, 2018, Department of Health, New South Wales Government.