Think you may have Cushing’s disease?
The first thing to do is find a endocrinologist (EN-doe-crin-OL-eh-gist). That’s a doctor who specializes in conditions related to your body’s hormones. Some even specialize in pituitary diseases—that’s who you’ll want to see if you suspect Cushing’s disease.
Tip: Keep a detailed list of symptoms for your appointment. You may also want to bring along some photos to show what you looked like before your started experiencing them.
Getting Diagnosed: Finding Answers
The diagnosis process was the hardest. It was just a roller coaster ride of being scared, feeling helpless but also being hopeful and positive that it would not be forever.
An endocrinologist who specializes in pituitary diseases can make a big difference in your journey. Use our Doctor Finder to locate one near you.Find a Doctor
Why is getting a Cushing’s disease diagnosis so difficult?
Cushing’s disease is rare, and no 2 people have the exact same signs and symptoms.
It may be mistaken for other, more common conditions. These include weight problems caused by poor diet and/or lack of exercise, poorly controlled diabetes, polycystic ovary syndrome (PCOS), pregnancy, depression or other mental health disorders, or alcoholism.
A pituitary tumor, the underlying cause of Cushing's disease, is often small and hard to find. That’s one reason why it’s important to find an endocrinologist who specializes in pituitary diseases.
On average, a Cushing’s diagnosis, which could include Cushing’s disease, can take up to 7 years.
Not being heard or understood? Keep trying. A struggle to be heard is perhaps the one thing all people with Cushing’s disease experience at some point. Remember this along the way—it may help you advocate for yourself when needed. Cushing’s disease is rare, but real. The sooner you are diagnosed, the better your chances of addressing symptoms and improving your quality of life.
Think you may have Cushing’s disease?
Path to Diagnosis
It was a relief to get a diagnosis, there was proof that I didn't just have all these symptoms for no reason.
Unfortunately, there is no one test for Cushing's disease. The first thing your doctor will do is rule out common causes for your symptoms, including any steroid medications you may be taking. If your symptoms still can't be explained, your doctor may decide to test for Cushing's syndrome by measuring your cortisol levels. If your cortisol levels are high, then it is important to determine the source of the problem so that it can be treated properly. If the source is due to a pituitary tumor, then the diagnosis is Cushing's disease. No one test is perfect, so doctors usually do two or more of the tests described below to confirm a diagnosis.
Test for high levels of cortisol which may indicate Cushing's syndrome.
24-hour-urine free cortisol (UFC) Your doctor will ask you to collect all of your urine for 24 hours. The entire sample will be tested to measure cortisol levels. Higher than normal cortisol levels may suggest Cushing's syndrome.
Late-night salivary cortisol This test measures cortisol levels in your saliva in the late evening. At bedtime, you will collect your saliva by spitting in a plastic tube or by chewing on a piece of cotton. You'll need to return it to your doctor in the morning. High cortisol levels may suggest Cushing's syndrome.
Overnight (low-dose) dexamethasone suppression test (DST) Dexamethasone (a steroid) lowers the levels of adrenocorticotropic hormone (ACTH) and cortisol. If these levels don't drop, it may suggest Cushing's syndrome.
Your doctor will ask you to take a low dose (1 mg) of dexamethasone around bedtime. A healthcare professional will draw your blood the following morning, usually around 8 AM.
Determine if high levels of cortisol are ACTH-dependent or ACTH-independent
This is important to know because it can help you and your doctor figure out what's causing your cortisol levels to be high. Talk with your doctor about what the results of your test mean for you.
Determine if the cortisol levels are due to a pituitary tumor, signaling Cushing’s disease.
Magnetic Resonance Imaging (MRI) If blood tests have indicated a pituitary tumor, imaging tests can help verify the presence and size of the tumor. If blood tests indicated a tumor somewhere else, this can help find the location.
Bilateral inferior petrosal sinus sampling This means that your doctor will get samples of fluid from the sinus behind your nose. It is the best way to determine if there is a pituitary tumor, especially if it is not visible on the MRI.
First, you’ll receive a dose of medication to cause the pituitary gland to release ACTH. Samples of blood are taken from the petrosal sinus, which are veins from the pituitary gland in the brain. A blood sample will also be taken further away from the pituitary gland.
Your doctor will compare these blood samples. Higher levels of ACTH in the blood from the petrosal sinuses may mean there is a pituitary tumor. If the levels of ACTH in all the blood samples are the same, this may suggest a tumor somewhere else.
High-dose DST Similar to low-dose DST but uses higher doses of dexamethasone.
If the cortisol levels in your blood drop, it may signal a pituitary tumor and Cushing's disease. This is known as ACTH-dependent Cushing's syndrome.
Why nighttime testing? And all-day testing? Well, cortisol follows a circadian rhythm. This is your internal clock, or your sleep/wake cycle. Cortisol levels vary during the day. Normally, they are higher in the morning and drop just after we fall asleep. In Cushing's disease, cortisol levels don't drop as they should, so it's important to measure levels at night. You may need to repeat these tests to get accurate results.
Finding an endocrinologist
(a doctor who specializes in conditions related to your body’s hormones)
Getting the diagnosis and putting the pieces together provided more clarity to why I was feeling this way.
The right endocrinologist can be one of your best advocates along your journey. Be sure to see someone who specializes in pituitary diseases—these doctors are more likely to have experience with Cushing’s disease.
The Doctor Finder tool below is a good way to start your search. It can tell you which endocrinologists near you have experience with Cushing’s disease.
The Doctor Finder is an independent third-party search widget. The links to third-party websites contained in this widget are provided solely for your convenience. Recordati Rare Diseases Inc. does not control the content contained on any third-party widget or website. Your activities at those websites will be governed by the policies and practices of those third parties.
More ways to find an endocrinologist
Local support groups
Are there support groups in your area? If so, they may be able to provide recommendations for endocrinologists or pituitary surgeons near you.
There are several nonprofit patient advocacy organizations dedicated to Cushing’s disease. They can provide helpful information and support for both patients and families.
Check out the websites of hospitals or give them a call. You don’t have to limit your search to “Cushing’s disease.” If they have staff who treat “pituitary diseases,” “hormonal conditions,” or who can test your cortisol levels, you can get going in the right direction. (Find out more about the link between cortisol and Cushing’s disease.)