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GTR Home > Conditions/Phenotypes > ACTH-independent macronodular adrenal hyperplasia 1

ACTH-independent macronodular adrenal hyperplasia 1

Synonyms
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA; ACTH-independent macronodular adrenal hyperplasia, somatic; ADRENOCORTICOTROPIC HORMONE-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; CORTICOTROPIN-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; CUSHING SYNDROME, ADRENAL, DUE TO AIMAH

Summary

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth or sixth decade of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD; see 610489), which is often a component of the Carney complex (160980) and associated with mutations in the PRKAR1A gene (188830). AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). See also ACTH-independent Cushing syndrome (615830) due to somatic mutation in the PRKACA gene (601639). Cushing 'disease' (219090) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal Hyperplasia AIMAH2 (615954) is caused by germline mutation on 1 allele of the ARMC5 gene (615549) coupled with a somatic mutation in the other allele. AIMAH3 (620990) is caused by germline mutation on 1 allele of the KDM1A gene (609132) coupled with a somatic mutation in the other allele. [from OMIM]

Available tests

21 tests are in the database for this condition.

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Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AHO, AIMAH1, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PITA3, POH, SCG6, SgVI, GNAS
    Summary: GNAS complex locus

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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