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ACTH-secreting pituitary adenoma


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Other Names:
Corticotroph pituitary adenoma; Pituitary corticotroph micro-adenoma; Pituitary dependent Cushing syndrome; Corticotroph pituitary adenoma; Pituitary corticotroph micro-adenoma; Pituitary dependent Cushing syndrome; Pituitary-dependent Cushing syndrome; Cushing's Disease; Cushing disease See More
Categories:
Endocrine Diseases; Female Reproductive Diseases; Male Reproductive Diseases; Endocrine Diseases; Female Reproductive Diseases; Male Reproductive Diseases; Rare Cancers See More
This disease is grouped under:
Cushing's syndrome

Summary Summary


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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.[1] Treatment generally involves surgery to remove the tumor and medications to decrease cortisol levels.[2]
Last updated: 12/16/2015

Symptoms Symptoms


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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.

Showing of 61 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Adrenal hyperplasia
Enlarged adrenal glands
0008221
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Lipodystrophy
Inability to make and keep healthy fat tissue
0009125
Pituitary adenoma
Noncancerous tumor in pituitary gland
0002893
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
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
Immunodeficiency
Decreased immune function
0002721
Infertility 0000789
Menorrhagia
Abnormally heavy bleeding during menstruation
0000132
Metrorrhagia
Abnormal uterus bleeding
0100608
Nephrolithiasis
Kidney stones
0000787
Osteoporosis 0000939
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
0002757
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ]
0002027
Avascular necrosis
Death of bone due to decreased blood supply
0010885
Bipolar affective disorder
Bipolar disorder
0007302
Cardiomyopathy
Disease of the heart muscle
0001638
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ]
0000518
Generalized hyperpigmentation 0007440
Headache
Headaches
0002315
Lethargy 0001254
Myopathy
Muscle tissue disease
0003198
Onychomycosis 0012203
Premature ovarian insufficiency
Early menopause
Premature menopause
Premature ovarian failure
[ more ]
0008209
Psychosis 0000709
Recurrent skin infections
Skin infections, recurrent
0001581
Sleep disturbance
Difficulty sleeping
Trouble sleeping
[ more ]
0002360
Telangiectasia of the skin 0100585
Venous thrombosis
Blood clot in vein
0004936
Visual loss
Loss of vision
Vision loss
[ more ]
0000572
Percent of people who have these symptoms is not available through HPO
Abdominal obesity
Central obesity
0012743
Abnormal fear/anxiety-related behavior 0100852
Alkalosis 0001948
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Biconcave vertebral bodies 0004586
Ecchymosis 0031364
Edema
Fluid retention
Water retention
[ more ]
0000969
Facial erythema
Blushed cheeks
Blushing
Red face
Red in the face
[ more ]
0001041
Hirsutism
Excessive hairiness
0001007
Impaired glucose tolerance 0040270
Increased circulating ACTH level
High blood corticotropin levels
0003154
Kyphosis
Hunched back
Round back
[ more ]
0002808
Mood changes
Moody
0001575
Obesity
Having too much body fat
0001513
Oligomenorrhea
Light or infrequent menstrual periods
0000876
Poor wound healing 0001058
Psychotic mentation 0001345
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ]
0003202
Striae distensae
Stretch marks
0001065
Vertebral compression fractures
Compression fracture
0002953
Showing of 61 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnoses of CD are the causes of CS (see this term).
Visit the Orphanet disease page for more information.

Organizations Organizations


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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

  • Adrenal Insufficiency United
    Toll-free: 1-855-AIUnite (248-6483)
    E-mail: contact@aiunited.org
    Website: http://aiunited.org/
  • 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
  • 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: http://www.endo-society.org
Do you know of an organization? We want to hear from you.

Living With Living With


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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

  • Good Days provides help to patients with life-altering conditions. Assistance includes help with the cost of medications and travel.
  • National Organization for Rare Disorders (NORD) has Disease-Specific Assistance Programs designed to help patients with out-of-pocket costs such as monthly insurance premiums or deductibles. In addition, some programs may provide financial assistance for additional expenses related to a patient's diagnosis such as travel to see a specialist.
  • 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. 

Learn More Learn More


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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

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • Genetics Home Reference (GHR) contains information on ACTH-secreting pituitary adenoma. This website is maintained by the National Library of Medicine.

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.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.

References References


  1. Cushing disease. Genetic Home Reference. June, 2012; http://ghr.nlm.nih.gov/condition/cushing-disease. Accessed 12/16/2015.
  2. Castinetti F, Morange I, Conte-Devolx B & Brue T. Cushing’s disease. Orphanet Journal of Rare Diseases. June 18, 2012; 2012:7:41. http://www.ojrd.com/content/7/1/41. Accessed 12/16/2015.
Do you know of a review article? We want to hear from you.
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