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GTR Home > Conditions/Phenotypes > Pituitary dependent hypercortisolism

Pituitary dependent hypercortisolism

Synonyms
CUSHING DISEASE, PITUITARY; Cushing disease due to pituitary adenoma; PITUITARY ADENOMA 4, ACTH-SECRETING; Pituitary ACTH Hypersecretion; Pituitary adenoma, acth-secreting, somatic
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: AIP Familial Isolated Pituitary Adenomas
AIP familial isolated pituitary adenoma (AIP-FIPA) is defined as the presence of an AIP germline pathogenic variant in an individual with a pituitary adenoma (regardless of family history). The most commonly occurring pituitary adenomas in this disorder are growth hormone-secreting adenomas (somatotropinoma), followed by prolactin-secreting adenomas (prolactinoma), growth hormone and prolactin co-secreting adenomas (somatomammotropinoma), and nonfunctioning pituitary adenomas (NFPA). Rarely TSH-secreting adenomas (thyrotropinomas) are observed. Clinical findings result from excess hormone secretion, lack of hormone secretion, and/or mass effects (e.g., headaches, visual field loss). Within the same family, pituitary adenomas can be of the same or different type. Age of onset in AIP-FIPA is usually in the second or third decade.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Márta Korbonits
Ajith V Kumar
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Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARA9, FKBP16, FKBP37, PITA1, SMTPHN, XAP-2, XAP2, AIP
    Summary: aryl hydrocarbon receptor interacting protein

  • Also known as: HumORF8, PITA4, SPG59, UBPY, USP8
    Summary: ubiquitin specific peptidase 8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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