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

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 pheochromo...

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Detalles Bibliográficos
Autores principales: Johns, Allison M, Vuong, Angela H, Hassan, Omer A, Randle, Reese W, Gorris, Matthew A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8713586/
https://www.ncbi.nlm.nih.gov/pubmed/34987852
http://dx.doi.org/10.1093/omcr/omab122
Descripción
Sumario: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.

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