Rare Endocrinology News
Disease Profile
ACTH-secreting pituitary adenoma
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
Adult
ICD-10
D35.2 E24.0
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)
Corticotroph pituitary adenoma; Pituitary corticotroph micro-adenoma; Pituitary dependent Cushing syndrome;
Categories
Endocrine Diseases; Female Reproductive Diseases; Male Reproductive Diseases;
Summary
ACTH-secreting pituitary adenoma is a condition characterized by elevated levels of a
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.
| 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 |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
| Depressivity |
Depression
|
0000716 |
| 0000819 | ||
| Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
| Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
| 0000822 | ||
| Hypokalemia |
Low blood potassium levels
|
0002900 |
|
Decreased immune function
|
0002721 | |
| Infertility | 0000789 | |
| Menorrhagia |
Abnormally heavy bleeding during menstruation
|
0000132 |
| Metrorrhagia |
Abnormal uterus bleeding
|
0100608 |
| Nephrolithiasis |
Kidney stones
|
0000787 |
| 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 |
|
Disease of the heart muscle
|
0001638 | |
|
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 | |
| 0000006 | ||
| 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 |
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
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: https://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: 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
- 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.
References
- Cushing disease. Genetic Home Reference. June, 2012; https://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. https://www.ojrd.com/content/7/1/41. Accessed 12/16/2015.