This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
ACTH-secreting pituitary adenoma is a condition characterized by elevated levels of a hormone called cortisol secreted by a tumor in the pituitary gland. It is part of a group of diseases that cause Cushing’s syndrome, characterized by signs and symptoms that may include weight gain around the trunk and in the face, stretch marks, easy bruising, a hump on the upper back, muscle weakness, tiredness, thin bones that are prone to fracture (osteoporosis), mood disorders and memory problems, as well as an increased risk of infections, high blood pressure and diabetes. Women may have irregular menses and a lot of hair in the body (hirsutism). It occurs when a benign pituitary tumor (adenoma) or pituitary hyperplasia causes the adrenal glands to produce large amounts of cortisol. Some cases are caused by somatic mutations in the AIP and the GNAS genes. Rarely, an ACTH-secreting pituitary adenoma can be inherited, either as an isolated condition or as part of a genetic syndrome (such as multiple endocrine neoplasia type 1 (MEN1) and familial isolated pituitary adenoma), but most cases are sporadic. Treatment generally involves surgery to remove the tumor and medications to decrease cortisol levels.
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