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Disease Profile

ACTH-secreting pituitary adenoma

Prevalence
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

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Adult

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 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]

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 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

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

    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

        1. Cushing disease. Genetic Home Reference. June, 2012; https://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. https://www.ojrd.com/content/7/1/41. Accessed 12/16/2015.