How Do Doctors Diagnose Cushing Syndrome?

The doctor will go over your child’s health history and do a physical exam. They might also do screening tests to figure out if your child’s body is making high levels of cortisol.

Screening tests may include:

  • A 24-hour urine collection for cortisol measurements
  • Late-night saliva sample (11 p.m. to midnight) for cortisol measurement
  • Assessment of a morning (8 a.m.) cortisol level following administration of oral dexamethasone at 11 p.m. the previous night

If 2 out the 3 screening tests show high cortisol levels, the doctor will do more tests to figure out the cause of endogenous cortisol production, such as a pituitary tumor making an excess of ACTH (also called Cushing disease), an adrenal tumor, or a tumor at a different site making too much of ACTH or a hormone that stimulates ACTH production (ectopic Cushing syndrome). These tests include:

  • An ACTH level
  • Imaging studies, such as an MRI or CT scan (to look at the pituitary gland, adrenal glands or other places for tumors)
  • Other tests that depend on the results of the previous tests

How Do Doctors Treat Cushing Syndrome?

Treatment of Cushing syndrome depends on the cause. For causes related to exogenous exposure to glucocorticoids, a member of your child’s care team might change the dose and/or how often your child takes this medication.

For tumors of the pituitary gland, adrenal glands, or ectopic tumors, surgery is the first option for treatment. In some cases, your child might also need radiation or medications to lower the amount of cortisol the body makes.

What Other Conditions Can Happen In or Be Associated with Cushing Syndrome?

  • Long-term use of glucocorticoids can lead to diabetes and high blood pressure.
  • Certain conditions are associated with an increased risk of Cushing syndrome. These include multiple endocrine neoplasia type 1 (MEN1) and Carney Complex. Some studies have reported a relatively high prevalence of Cushing Syndrome among women with obesity and polycystic ovarian syndrome.

When should I call the doctor?

Call the doctor if your child shows symptoms of Cushing syndrome, especially if they are gaining weight quickly without a change in height.

Rev. 3/2020. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.