Multiple endocrine neoplasia 2A presenting in a family with a history of Hirschprung’s disease

ABSTRACT Hirschprung’s disease co-occurs with multiple endocrine neoplasia type 2A infrequently but at a higher rate with certain RET mutations. We present a case of a patient evaluated for an adrenal incidentaloma with a history of familial Hirschprung’s. Our patient was found to have synchronous p...

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Bibliographic Details
Published in:Oxford Medical Case Reports 2021-11, Vol.2021 (11-12), p.omab122
Main Authors: Johns, Allison M, Vuong, Angela H, Hassan, Omer A, Randle, Reese W, Gorris, Matthew A
Format: Article
Language:English
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Case Report
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Summary:ABSTRACT Hirschprung’s disease co-occurs with multiple endocrine neoplasia type 2A infrequently but at a higher rate with certain RET mutations. We present a case of a patient evaluated for an adrenal incidentaloma with a history of familial Hirschprung’s. Our patient was found to have synchronous pheochromocytoma and medullary thyroid carcinoma illustrating the importance of genetic testing in these patients to determine appropriate screening for endocrine tumors.
ISSN:2053-8855
2053-8855
DOI:10.1093/omcr/omab122