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SAT-193 Clinical Case of ARMC5 Tumor Syndrome: A Rare Case of Cushing’s Syndrome from Primary Bilateral Macronodular Adrenal Hyperplasia Caused by ARMC5 Mutation with Concomitant Presence of Meningiomas and Primary Hyperparathyroidism

Authors :
Sahil Parikh
Jeena Matthews
Sara Lubitz
Stephen H. Schneider
Source :
Journal of the Endocrine Society
Publication Year :
2020
Publisher :
Oxford University Press, 2020.

Abstract

BACKGROUND: Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a known rare cause of Cushing’s syndrome (CS). A mutation in the armadillo repeat containing 5 (ARMC5) sequence is associated with up to 55% of PBMAH cases. Recent studies have linked ARMC5 mutations to presence of other benign neoplasias suggesting that ARMC5 could be a tumor suppressor gene. Case: 72-year-old female with a history of obesity, HTN, DM2, osteoporosis, multiple meningiomas, and hypercalcemia with recurrent kidney stones was incidentally found to have bilateral adrenal nodules on CT imaging. She had mild cushingoid features with truncal obesity and moon facies. She had multiple low dose dexamethasone suppression tests with AM cortisol levels in 17-21 ug/dL range (

Details

Language :
English
ISSN :
24721972
Volume :
4
Issue :
Suppl 1
Database :
OpenAIRE
Journal :
Journal of the Endocrine Society
Accession number :
edsair.doi.dedup.....3fb820f3398fd113754dc073108c49b6