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Genetic and Rare Diseases Information Center (GARD)

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Cushing's syndrome

Other Names for this Disease
  • Adrenal cortex adenoma
  • Adrenal hyperfunction resulting from pituitary acth excess
  • Cushing syndrome
  • Ectopic ACTH syndrome
  • Ectopic adrenocorticotropic hormone syndrome
More Names
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Your Question

My sister has been diagnosed with Cushing's syndrome. Is this disease hereditary?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes Cushing's syndrome?

Cushing's syndrome is caused by long-term exposure of the body's tissues to cortisol, a hormone that is naturally produced by the adrenal gland. Exposure to too much cortisol can result from long-term use of synthetic glucocorticoid hormones used to treat inflammatory illnesses. Excess levels of cortisol may also result from pituitary adenomas (benign tumors of the pituitary gland) which secrete increased amounts of adrenocorticotropic hormone or ACTH), a substance that controls the release of cortisol. Tumors of the adrenal gland or other areas of the body may also cause cortisol imbalances.[1]  
Last updated: 2/26/2013

Is Cushing's syndrome inherited?

Most cases of Cushing's syndrome are not inherited. Rarely, however, Cushing's syndrome results from an inherited tendency to develop tumors of one or more endocrine glands (which release hormones into the bloodstream). Conditions which may be associated with this tendency include:[2]

Last updated: 2/26/2013

How is Cushing's syndrome diagnosed?

Diagnosis is based on a review of a person's medical history, a physical examination, and laboratory tests. X rays of the adrenal or pituitary glands can be useful in locating tumors. The three most common laboratory tests used in the diagnosis of Cushing's syndrome are the 24-hour urinary free cortisol test, measurement of midnight plasma cortisol or late-night salivary cortisol, and the low-dose dexamethasone suppression test. Another test, the dexamethasone-corticotropin-releasing hormone test, may be needed to distinguish Cushing's syndrome from other causes of excess cortisol.[2] Click here to learn more about these tests.
Last updated: 2/26/2013