National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cushing's syndrome


Other Names:
Cushing syndrome; Hypercortisolism; Nodular primary adrenocortical dysplasia; Cushing syndrome; Hypercortisolism; Nodular primary adrenocortical dysplasia; Adrenal cortex adenoma; Adrenal hyperfunction resulting from pituitary acth excess; Ectopic ACTH syndrome; Ectopic adrenocorticotropic hormone syndrome; Hyperadrenocorticism See More
Categories:
Subtypes:
Cushing's syndrome is an endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol (a hormone produced by the adrenal gland). It most commonly affects adults between age 20 and 50 years. Signs and symptoms of Cushing's syndrome include upper body obesity, fatigue, muscle weakness, high blood pressure, backache, high blood sugar, easy bruising and bluish-red stretch marks on the skin. Affected women may also experience irregular menstrual periods and increased growth of body and facial hair. This condition may be caused by a variety of factors including long-term use of corticosteroid medications, tumors in the pituitary gland or adrenal adenomas.Treatment depends on the underlying cause, but may include decreasing the dosage of corticosteroids or surgery to remove tumors.[1][2]
Last updated: 11/28/2014

The signs and symptoms of Cushing's syndrome may include:[1]

  • Upper body obesity
  • Severe fatigue
  • Muscle weakness
  • High blood pressure
  • Backache
  • Elevated blood sugar
  • Easy bruising
  • Bluish-red stretch marks on the skin
  • Neurological issues

Women with Cushing's syndrome may also experience increased growth of facial and body hair, and menstrual periods may become irregular or cease.[1][2] Men may have decreased fertility, diminished sexual desire, and/or erectile dysfunction.[2]
Last updated: 11/30/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal subcutaneous fat tissue distribution
Abnormal fat tissue distribution below the skin
0007552
Erectile dysfunction
Abnormal erection
Erectile abnormalities
[ more ] 		0100639
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] 		0001510
Round face
Circular face
Round facial appearance
Round facial shape
[ more ] 		0000311
Thin skin 0000963
Truncal obesity 0001956
30%-79% of people have these symptoms
Acne 0001061
Anxiety
Excessive, persistent worry and fear
0000739
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Decreased fertility
Abnormal fertility
0000144
Depressivity
Depression
0000716
Diabetes mellitus 0000819
Fatigue
Tired
Tiredness
[ more ] 		0012378
Generalized hirsutism
Excessive hairiness over body
0002230
Hypertension 0000822
Hypokalemia
Low blood potassium levels
0002900
Irregular menstruation
Menstrual irregularity
0000858
Irritability
Irritable
0000737
Muscle weakness
Muscular weakness
0001324
Nephrolithiasis
Kidney stones
0000787
Osteoporosis 0000939
Purpura
Red or purple spots on the skin
0000979
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] 		0002757
Striae distensae
Stretch marks
0001065
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Abnormality of the gastric mucosa
Abnormality of the mucous membrane layer of stomach
0004295
Avascular necrosis
Death of bone due to decreased blood supply
0010885
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Hypercalcemia
High blood calcium levels
Increased calcium in blood
[ more ] 		0003072
Hypercholesterolemia
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ] 		0003124
Hyponatremia
Low blood sodium levels
0002902
Increased circulating cortisol level 0003118
Myopathy
Muscle tissue disease
0003198
Neoplasm of the adrenal gland 0100631
Psychosis 0000709
Reduced consciousness/confusion
Disturbances of consciousness
Lowered consciousness
[ more ] 		0004372
Secondary amenorrhea
Previous menstrual periods stop
0000869
Sleep disturbance
Difficulty sleeping
Trouble sleeping
[ more ] 		0002360
Telangiectasia of the skin 0100585
Percent of people who have these symptoms is not available through HPO
Adult onset
Symptoms begin in adulthood
0003581
Agitation 0000713
Autosomal dominant inheritance 0000006
Decreased circulating ACTH level 0002920
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Macronodular adrenal hyperplasia 0008231
Mental deterioration
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] 		0001268
Mood changes
Moody
0001575
Neoplasm 0002664
Osteopenia 0000938
Primary hypercortisolism 0001579
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Somatic mutation 0001428
Sporadic
No previous family history
0003745
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Last updated: 7/1/2020
Cushing's syndrome is caused by long-term exposure of the body's tissues to cortisol, a hormone that is naturally produced by the adrenal gland. Exposure to too much cortisol can result from long-term use of corticosteriod medications used to treat inflammatory illnesses. Pituitary adenomas (benign tumors of the pituitary gland) or tumors of the adrenal gland may also cause cortisol imbalances.[1]
Last updated: 11/30/2014
Most cases of Cushing's syndrome are not inherited. However, Cushing's syndrome rarely occurs in inherited conditions characterized by the development of tumors of one or more endocrine gland. These conditions may include:[2]
  • Primary pigmented micronodular adrenal disease, in which children or young adults develop small cortisol-producing tumors of the adrenal glands,
  • Multiple endocrine neoplasia type 1 (MEN1), in which hormone-secreting tumors of the parathyroid glands, pancreas, and pituitary develop. Cushing's syndrome in MEN1 may be due to pituitary or adrenal tumors.
Last updated: 11/30/2014

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • The Endocrine Society Clinical Practice Guideline for Cushing's syndrome was developed by the Endocrine Society, a global network of endocrinologists working as physicians, researchers, clinicians, scientists, and educators. The guidelines provide evidence-based recommendations for clinical care and practice.

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Mifepristone (Brand name: Korlym) - Manufactured by Corcept Therapeutics, Inc.
    FDA-approved indication: Korlym is approved for use in patients with endogenous Cushing's syndrome who have type 2 diabetes or glucose intolerance and are not candidates for surgery or have not responded to prior surgery.
    National Library of Medicine Drug Information Portal
  • Pasireotide (Brand name: Signifor) - Manufactured by Novartis Pharmaceuticals Corporation
    FDA-approved indication: June 2018, approved for the treatment of patients with Cushing’s disease for whom pituitary surgery is not an option or has not been curative. Also, December 2014, approved for the treatment of patients with acromegaly who have had an inadequate response to surgery and/or for whom surgery is not an option.
    National Library of Medicine Drug Information Portal

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Cushing's syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • Patient Access Network Foundation (PAN Foundation) has Assistance Programs for those with health insurance who reside in the United States. The disease fund status can change over time, so you may need to check back if funds are not currently available. 

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cushing's syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. NINDS Cushing's Syndrome Information Page. National Institute of Neurological Disorders and Stroke. July 2013; http://www.ninds.nih.gov/disorders/cushings/cushings.htm.
  2. Cushing's Syndrome. National Endocrine and Metabolic. April 2012; http://www.endocrine.niddk.nih.gov/pubs/cushings/cushings.aspx. Accessed 2/26/2013.