Cushing’s syndrome is the term used when there is an abnormal, very high level of cortisol in the blood.

Cortisol is a steroid and therefore the signs and symptoms of the disease (see below) are those of a steroid overload, which are both mental and physical. Luckily, most symptoms resolve with treatment once a diagnosis has been made, though the diagnosis can sometimes be challenging.

Causes

Cause of Cushing’s Syndrome

There are 4 causes of Cushing syndrome. It is important to distinguish where the abnormal cortisol is coming from because the treatments are different based on the source.

  • Pituitary tumor: The most common cause (70-80%) of Cushing’s Syndrome is Cushing’s disease, which refers to tumors of the pituitary gland.
  • Adrenal tumor: Approximately 10% of patients with Cushing’s syndrome have an adrenal tumor, most commonly a benign adrenal nodule or bilateral adrenal hyperplasia that is producing excess cortisol directly. Adrenal cancer produces excess cortisol about 50% of the time, but it is a very rare tumor.
  • Ectopic tumor: Approximately 10% of patients with Cushing’s syndrome have an ectopic cancer, most commonly in the lung, that produces cortisol or a similar and equivalent steroid hormone.
  • Ingesting excessive amounts of steroids
Signs and Symptoms

Signs and Symptoms of Cushing’s Syndrome

Regardless of the cause, the symptoms are the same. However, many are either non-specific, common complaints or medical conditions and therefore the diagnosis is not always straightforward.

Moreover, there are a group of patients with little to no symptoms but abnormal labs who are categorized as ‘subclinical Cushings’ and should still be considered for treatment.

Signs

  • High blood pressure
  • Diabetes
  • Moon facies (round facial shape)
  • Buffalo hump (mound of fat at the back of the neck)
  • Stretch marks
  • Abnormal hair growth
  • Osteoporosis

Symptoms

cushing-syndrome

  • Easy bruising
  • Fatigue
  • Weight gain (particularly around the mid-section)
  • Leg swelling
  • Mood swings
  • Irregular periods
  • Muscle weakness
  • Mental fogginess
Diagnosis

Diagnosis of Cushing’s Syndrome

Diagnosis is made by a series of blood, salivary, and sometimes urine tests along with imaging (workup of adrenal tumors).  These include not only your cortisol levels at specific times of the day but also deciphering where the source of the excess cortisol is coming from.

  • Blood/urine tests to diagnose Cushing’s: salivary midnight cortisol, stimulated am cortisol
  • Blood test to diagnose adrenal Cushing’s:  ACTH (it will be low, or suppressed)
  • Other blood/urine tests may be run to rule our other diagnoses that can have overlapping symptoms and for greater specificity.
  • Certain medications can give a false positive result, so if your numbers are mildly elevated your physician may choose to repeat your labs and/or adjust your medications first.
  • Imaging of adrenal Cushing’s: CT or MRI with contrast, adrenal protocol abdomen.

Once it is determined if the source is pituitary, adrenal, or an ectopic tumor, appropriate imaging (either a brain MRI or abdominal CT with special protocols) will be ordered.

Risk Factors

Risk Factors of Adrenal Cushing's

There are a few hereditary endocrine tumor syndromes that increase one’s risk for pituitary and adrenal tumors, which can be cortisol producing, the most common being MEN1. All patients with confirmed macronodular hyperplasia should be tested as well. If you have more than one hormone-producing tumor or multiple family members with these tumors, genetic testing and counseling is recommended.

Follow Up

Prognosis and Follow Up

Over time, many of your symptoms should go away; weight loss, bruising, and face shape generally happen first. However, your body needs time to re-regulate itself, so these changes are not going to happen overnight. For instance, if you have newly diagnosed diabetes and/or high blood pressure that was caused by Cushing’s, they will likely improve over time and for a good number of patients, you will return to your pre-CUshing’s state. However, if they have been long-standing, there may be some lasting effects and therefore close monitoring is needed. Additionally, some autoimmune disorders may have been suppressed by the increased cortisol levels and so may appear/reappear after normalization of cortisol levels.

You will have regular follow-up with your endocrinologist to help manage your medications and monitor your blood tests. You should also return to your surgeon for a post-op visit 2 weeks after surgery as well as at one year. You will likely have yearly blood tests due to the very small chance of recurrence in the other adrenal gland. Cardiovascular, bone, and glucose monitoring should be performed on a regular basis.

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