Disease Directory Cushing Disease
Endocrine

Cushing Disease

Also known as: ACTH-secreting pituitary adenoma, pituitary Cushing, hypercortisolism, Cushing pituitary

Prevalence

2–3 per million per year

Onset

Any age; peak incidence in third to fifth decade; female predominance

Type

Sporadic (vast majority); rarely MEN1-associated

About Cushing Disease

Cushing Disease refers specifically to hypercortisolism caused by an ACTH-secreting pituitary adenoma (corticotroph adenoma), which drives bilateral adrenocortical hyperplasia and excessive cortisol production, distinguishing it from the broader term Cushing syndrome which encompasses all causes of glucocorticoid excess. It accounts for approximately 70% of endogenous Cushing syndrome cases, affects women more often than men by a ratio of roughly 3:1, and is associated with significant morbidity including hypertension, diabetes, osteoporosis, immune suppression, psychiatric disorders, and a markedly elevated cardiovascular mortality if untreated. Transsphenoidal surgery remains first-line treatment, but recurrence rates of 15–40% drive ongoing development of pituitary-targeted and adrenal-targeted pharmacological therapies.

Common Clinical Features

Central obesity with buffalo hump and supraclavicular fat pads Wide purple striae on the abdomen, thighs, and breasts Proximal myopathy and muscle weakness Hypertension and glucose intolerance or frank diabetes Osteoporosis with fragility fractures Facial plethora and moon face Easy bruising and thin skin Psychiatric manifestations including depression and cognitive impairment

Clinical Trial Eligibility Tips

What to know before applying to Cushing Disease trials.

Biochemical confirmation of ACTH-dependent hypercortisolism (elevated 24-hour urinary free cortisol on two occasions, failed overnight dexamethasone suppression, elevated late-night salivary cortisol) plus pituitary imaging is required before trial enrolment.

Prior pituitary surgery or radiotherapy history must be disclosed; trials of novel pituitary-directed agents typically enrol patients with persistent or recurrent disease after transsphenoidal surgery.

Glucose control, blood pressure, and bone density status at baseline are used for safety stratification; bring recent HbA1c, blood pressure records, and DXA scan results to screening appointments.

Patient Resources

Patient Organization

Cushing's Support and Research Foundation

Visit website ↗

Natural History Registry

European Registry on Cushing Syndrome (ERCUSYN)

Join registry ↗

Orphanet

European reference resource for rare diseases (ORPHA:96253)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Cushing Disease trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Cushing Disease. Updated daily.

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