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Disease Profile
Cushing’s syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
All ages
ICD-10
E24.0 E24.1 E24.2 E24.3 E24.4 E24.8 E24.9
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Cushing syndrome; Hypercortisolism; Nodular primary adrenocortical dysplasia;
Categories
Endocrine Diseases; Female Reproductive Diseases; Male Reproductive Diseases
Summary
Cushing's
Symptoms
The signs and symptoms of Cushing's
- 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]
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal subcutaneous fat |
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 |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
Decreased fertility |
Abnormal fertility
|
0000144 |
Depressivity |
Depression
|
0000716 |
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 |
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 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Dilated |
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 |
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 | |
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 |
0001428 | ||
Sporadic |
No previous family history
|
0003745 |
Cause
Treatment
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 ofendocrinologists 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
Organizations
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
-
Cushing's Support and Research Foundation
65 East India Row Suite 22B
Boston, MA 02110-3389
Telephone: +1-617-723-3674
E-mail: https://csrf.net/about-csrf/contact-us/
Website: https://csrf.net -
National Adrenal Diseases Foundation (NADF)
P.O. Box 566
Lake Zurich, IL 60047
Telephone: +1-(847) 726-9010
E-mail: nadfmail@nadf.us
Website: https://www.nadf.us -
Pituitary Network Association
P.O. Box 1958
Thousand Oaks, CA 91358
Telephone: +1-805-499-9973
Fax: +1-805-480-0633
E-mail: info@pituitary.org
Website: https://pituitary.org/ -
The Endocrine Society
8401 Connecticut Avenue, Suite 900
Chevy Chase, MD 20815
Toll-free: 888–363–6274
Telephone: 301–941–0200
Fax: 301–941–0259
E-mail: societyservices@endo-society.org
Website: https://www.endo-society.org
Learn more
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
- The Cushing's Support and Research Foundation provides information and support for people with Cushing syndrome. Click on Cushing's Support and Research Foundation to view information on Cushing's.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Kidney and Urologic Diseases Information Clearinghouse (NIDDK) conducts and supports research on a broad spectrum of diseases affecting public health. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Pituitary Society has a patient education booklet on Cushing's syndrome with information on symptoms, diagnosis, treatment, and more.
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.
References
- NINDS Cushing's Syndrome Information Page. National Institute of Neurological Disorders and Stroke. July 2013; https://www.ninds.nih.gov/disorders/cushings/cushings.htm.
- Cushing's Syndrome. National Endocrine and Metabolic. April 2012; https://www.endocrine.niddk.nih.gov/pubs/cushings/cushings.aspx. Accessed 2/26/2013.
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