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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
- 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 (
- Subjects :
- Pathology
medicine.medical_specialty
S syndrome
business.industry
Endocrinology, Diabetes and Metabolism
Tumor Syndrome
medicine.disease
Concomitant
Macronodular Adrenal Hyperplasia
Mutation (genetic algorithm)
Rare case
medicine
Clinical case
Adrenal
business
Primary hyperparathyroidism
AcademicSubjects/MED00250
Adrenal Case Reports I
Subjects
Details
- Language :
- English
- ISSN :
- 24721972
- Volume :
- 4
- Issue :
- Suppl 1
- Database :
- OpenAIRE
- Journal :
- Journal of the Endocrine Society
- Accession number :
- edsair.doi.dedup.....3fb820f3398fd113754dc073108c49b6