Description
Results from the increased presence of cortisol in the body. The disease is caused by a tumor or excess growth (hyperplasia) of the pituitary gland. This gland is located at the base of the brain. The gland produces too much ACTH resulting in excess cortisol. Cortisol controls the body's use of carbohydrates, fats, and proteins and also helps reduce the immune system's response to swelling (inflammation).
Symptoms
Abdomen that sticks out and thin arms and legs (central obesity), acne or skin infections, collection of fat on the back of the neck (buffalo hump), depression, diabetes, easy bruising, excessive facial hair growth in females, headache, impotence, increased urination, moon face (round, red, and full), bones become weak, stopping of menstruation, muscle weakness, weight gain.
Tests
Common tests used for diagnosis and treatment
Workup:
A history and physical exam will be performed. Tests to identify too much cortisol will be performed including: a 24-hour urine cortisol, and/or a dexamethasone suppression test (low dose). The following tests to determine the cause of too much ACTH may be performed: brain MRI, dexamethasone suppression test (high dose), serum ACTH levels, test that measures ACTH levels in the veins that drain the pituitary gland (petrosal sinus sampling).
Tests:
Complete blood count (CBC), Comprehensive metabolic panel (CMP), Magnetic resonance imaging (MRI)
Other Specific Tests: 24-hour urine cortisol, dexamethasone suppression test (low dose), dexamethasone suppression test (high dose), serum ACTH levels, test that measures ACTH levels in the veins that drain the pituitary gland (petrosal sinus sampling)
Specialists:
Endocrinology, Pediatric Rheumatology
Workup:
A history and physical exam will be performed. Tests to identify too much cortisol will be performed including: a 24-hour urine cortisol, and/or a dexamethasone suppression test (low dose). The following tests to determine the cause of too much ACTH may be performed: brain MRI, dexamethasone suppression test (high dose), serum ACTH levels, test that measures ACTH levels in the veins that drain the pituitary gland (petrosal sinus sampling).
Tests:
Complete blood count (CBC), Comprehensive metabolic panel (CMP), Magnetic resonance imaging (MRI)
Other Specific Tests: 24-hour urine cortisol, dexamethasone suppression test (low dose), dexamethasone suppression test (high dose), serum ACTH levels, test that measures ACTH levels in the veins that drain the pituitary gland (petrosal sinus sampling)
Specialists:
Endocrinology, Pediatric Rheumatology
Treatment
The portion of the pituitary gland producing too much ACTH is removed surgically. Radiation therapy is sometimes also needed after surgery. Cortisol replacement after surgery is sometimes needed. If surgery and radiation are not effective, drugs to reduce ACTH production may be administered. If the cortisol levels are still too high, surgery to remove the adrenal glands may be recommended.