Cushing’s syndrome is a rare endocrine disorder (a disorder involving the body’s production and regulation of hormones). It occurs when the body experiences prolonged exposure to excessive levels of cortisol, a hormone naturally produced by the adrenal gland. Because Cushing’s syndrome can cause a wide range of symptoms—including weight gain, headache, fatigue, high blood pressure, and others—it is often difficult to diagnose.
40 to 70
People out of every million who have Cushing’s syndrome
30 to 50 years old
Most common age range affected
As many women affected as men
Cushing’s Syndrome Risk Factors
Cushing’s syndrome occurs when the body’s tissues experience chronic long-term exposure to the hormone cortisol. Cortisol is sometimes called the “stress hormone” because it helps the body respond to stress. It also helps regulate blood pressure and blood sugar levels, reduce inflammation, and turn food into energy. Cortisol is naturally produced in the adrenal glands, two small glands on top of the kidneys.
Cushing’s syndrome most commonly affects adults between 30 and 50 years old, but it can also develop in children. Too much cortisol can be caused by an external factor (exogenous Cushing’s syndrome) or by something inside the body (endogenous Cushing’s syndrome).
Exogenous Cushing’s Syndrome
Long-term, high-dose use of glucocorticoids is the most common cause of Cushing’s syndrome. A glucocorticoid is a medication similar to cortisol that is used to treat inflammatory issues such as asthma, rheumatoid arthritis, lupus, joint pain, and skin rashes.
Endogenous Cushing’s Syndrome
Pituitary adenomas cause 8 out of 10 of the cases of Cushing’s disease that are not caused by glucocorticoids. Pituitary adenomas are non-cancerous tumors of the pituitary gland that produce too much adrenocorticotropic hormone (ACTH)—a hormone that controls cortisol release, which in turn causes an overproduction of cortisol. When Cushing’s syndrome is caused by pituitary tumors that make too much ACTH, it is called Cushing’s disease.
Excess cortisol can also be caused by tumors of the adrenal gland or ectopic ACTH syndrome, a condition in which potentially cancerous tumors throughout the body produce ACTH.
Cushing’s Syndrome Signs and Symptoms
Common symptoms of Cushing’s syndrome include:
Weight gain, including upper body obesity, a round “moon face,” increased fat at the base of the neck, and a fatty hump between the shoulders
Thin arms and legs
High blood pressure
Headache or back pain
Elevated blood sugar
Purple stretch marks on the skin
Cushing’s syndrome can also cause neurologic symptoms such as muscle weakness and problems with memory and concentration.
Women with Cushing’s syndrome may experience an increase in facial and body hair, acne, and irregular or loss of menstrual periods. Men with Cushing’s syndrome may develop a decrease in fertility, a lower sex drive, and erectile dysfunction.
Cushing’s syndrome can cause serious health issues, including heart attack, stroke, blood clots, impaired immune function that can lead to infections, bone loss, mood disorders, insulin resistance, and type 2 diabetes.
Cushing’s Syndrome Diagnosis
Cushing’s syndrome can be difficult to diagnose because many of its symptoms, such as fatigue and weight gain, can also have other causes. It is sometimes misdiagnosed as polycystic ovary syndrome or metabolic syndrome.
Doctors will typically base a Cushing’s syndrome diagnosis on a physical exam, medical history including any use of glucocorticoids, and lab tests if necessary. Lab tests may include:
24-hour urinary free-cortisol test – Testing a 24-hour urine sample for cortisol, ACTH, and other hormone levels
Late-night salivary cortisol test – Testing a saliva sample for a normal late-evening drop in cortisol levels (or no drop in the case of Cushing’s syndrome)
Low-dose dexamethasone suppression test (LDDST) – Blood testing to measure cortisol levels after taking a low-dose glucocorticoid called dexamethasone
Dexamethasone-CRH test – Blood testing to determine whether excess cortisol is being caused by Cushing’s syndrome or something else
After being diagnosed with Cushing’s syndrome, additional testing can help determine the specific cause—typically categorized as pituitary, ectopic, or adrenal. A blood test that shows a low level of ACTH typically indicates an adrenal tumor, while a normal or high level of ACTH typically indicates a pituitary or ectopic tumor.
Cushing’s Syndrome Treatment Options
Most cases of Cushing’s syndrome can be cured through treatment. The treatment and prognosis of Cushing’s syndrome depends on the cause of excess cortisol in the body. If this is due to long-term use of glucocorticoids to treat another disorder, doctors may recommend reducing the dosage until symptoms of Cushing’s syndrome are controlled.
In the case of tumors or ectopic ACTH syndrome, the most common treatment is surgery to remove the tumors. In these cases, treatment will also focus on minimizing the risk of hormone deficiency or need for medication. Chemotherapy, radiation therapy, and immunotherapy are also options for treating ectopic ACTH syndrome.
For individuals who cannot undergo surgery or still have Cushing’s syndrome after surgery, the U.S. Food and Drug Administration has approved oral tablets and injections that help reduce cortisol levels and improve symptoms.
Cushing’s Syndrome Research Efforts
Research efforts are focused on learning more about Cushing’s syndrome and its causes in order to develop more effective ways to diagnose, treat, and cure the disorder. People with Cushing’s syndrome can participate in clinical trials that test new methods of diagnosis and treatment.
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