Summary

• Congenital adrenal hyperplasia, or CAH, is an inherited group of health conditions that affects the adrenal glands.
• In many cases, a person who has CAH makes too many androgens (male sex hormones) and not enough of other hormones (cortisol and aldosterone).
• There are 2 main types of CAH: classical CAH (usually more severe) and non-classical (usually milder).
• Symptoms of classical CAH include abnormal genital (sex organ) development, poor weight gain or weight loss, dehydration and vomiting.
• CAH can be managed with medicines including synthetic cortisol to help keep hormones at a normal level.

These key facts are from healthdirect.gov.au (accessed 28 Jan 2025). Visit the healthdirect website for more information about congenital adrenal hyperplasia.

Relevant Tests

If your doctor suspects you have congenital adrenal hyperplasia, they may request a number of the following tests.

• Prenatal Testing:
  • Amniocentesis: A sample of amniotic fluid is taken to examine the cells for genetic changes.
  • Chorionic Villus Sampling: Cells from the placenta are examined for genetic mutations.
• Newborn Screening:
  • Newborns are routinely screened for CAH shortly after birth with a blood test to measure hormone levels of 17-hydroxyprogesterone.
• Blood Tests:
  • Blood tests are used to measure other hormone levels produced by the adrenal glands, such as cortisol, aldosterone and androgens. Your doctor will also check for sodium and potassium levels.
• Genetic Testing:
  • Genetic testing can confirm the diagnosis by identifying mutations in the CYP21A2 gene, which are commonly associated with CAH.

These test results help to identify CAH and determine the most appropriate treatment.

If you are diagnosed with CAH, some of these tests will be used to monitor and manage your condition.

Find information about specific tests:

• 17-Hydroxyprogesterone
• Adrenocorticotropic hormone (ACTH)
• Cortisol
• Dehydroepiandrosterone sulfate (DHEAS)
• Glucose
• Sodium and Potassium
• Testosterone