Home/Rare Diseases/Cushing Disease

Endocrine & Hormonal

Cushing Disease

Also called Cushing Syndrome (pituitary-dependent), ACTH-secreting pituitary adenoma

Cushing Disease results from ACTH overproduction by a pituitary adenoma, stimulating excessive cortisol synthesis by the adrenal glands. Excess cortisol causes multiple systemic effects through glucocorticoid receptor activation.

View active trialsMatch me to a trial

About Cushing Disease

Cushing Disease results from ACTH overproduction by a pituitary adenoma, stimulating excessive cortisol synthesis by the adrenal glands. Excess cortisol causes multiple systemic effects through glucocorticoid receptor activation. Characteristic appearance results from central fat redistribution with abdominal and dorsocervical obesity, supraclavicular fat pads ('buffalo hump'), and facial plethora ('moon facies'). Cutaneous changes include purple stretch marks, thin fragile skin with easy bruising, and hyperpigmentation. Metabolic complications include insulin resistance, type 2 diabetes (10-30% of patients), dyslipidemia, and growth impairment in children. Cardiovascular complications are severe, with hypertension occurring in 80% and representing a major source of morbidity. Osteoporosis develops in 50% due to accelerated bone loss. Psychiatric manifestations are prominent, with major depression occurring in 40-50%, and psychosis, anxiety, and cognitive impairment common. Immunosuppression increases infection risk. Diagnosis requires confirmation of hypercortisolism (24-hour urine cortisol, late-night salivary cortisol) and demonstration of ACTH source through inferior petrosal sinus sampling and pituitary imaging.

Common Symptoms

  • Central obesity with 'buffalo hump' and supraclavicular fat pads
  • Purple stretch marks
  • Easy bruising
  • Muscle weakness and wasting
  • Hypertension and diabetes
  • Mood changes including depression, anxiety, and psychosis

Who It Affects

Cushing Disease typically presents in adults aged 30-50 years, though it can occur at younger ages. It affects females more commonly than males, with a female-to-male ratio of approximately 3:1. The disease occurs across all racial and ethnic groups. The underlying ACTH-secreting pituitary adenoma is usually small (microadenoma) and may not be visualized on initial imaging.

Getting Involved in Clinical Trials

Clinical trials for Cushing Disease focus on optimized surgical techniques, radiation therapy protocols, and novel medical therapies for disease control when surgery or radiation fails. Pasireotide, cabergoline, and ketoconazole represent medical options being refined in trials. Novel agents targeting ACTH secretion or cortisol synthesis are under investigation. Transsphenoidal surgery remains the primary treatment, with refined techniques improving success rates. Patients should consult with an endocrinologist and neurosurgeon experienced in Cushing disease.

Trusted Sources

Active Clinical Trials for Cushing Disease

Finding trials for Cushing Disease...

Related Endocrine & Hormonal Conditions

Endocrine & Hormonal

Graves' Disease

Graves' disease is the most common cause of hyperthyroidism, an autoimmune condition where antibodies stimulate the thyr...

Endocrine & Hormonal

Pheochromocytoma

Pheochromocytoma is a rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla that produces exces...

Endocrine & Hormonal

Addison Disease

Addison Disease is a rare endocrine disorder in which the adrenal glands fail to produce adequate cortisol and aldostero...