ACTH-secreting pituitary adenoma

Title

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

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

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
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

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Last updated: 8/1/2020

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Find a Specialist Find a Specialist

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 Genetics Home Reference.

Related Diseases Related Diseases

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

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

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Living With Living With

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

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

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

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

News

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May 21, 2020

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References References

Cushing disease. Genetic Home Reference. June, 2012; http://ghr.nlm.nih.gov/condition/cushing-disease. Accessed 12/16/2015.
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.

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