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

Autor:	Johns AM; Division of Endocrinology and Metabolism, Atrium Health Wake Forest Baptist Medical Center, Winston-Salem 27157, USA., Vuong AH; Department of Internal Medicine, Atrium Health Wake Forest Baptist Medical Center, Winston-Salem 27157, USA., Hassan OA; Department of Pathology, Atrium Health Wake Forest Baptist Medical Center, Winston-Salem 27157, USA., Randle RW; Department of General Surgery, Atrium Health Wake Forest Baptist Medical Center, Winston-Salem 27157, USA., Gorris MA; Division of Endocrinology and Metabolism, Atrium Health Wake Forest Baptist Medical Center, Winston-Salem 27157, USA.
Jazyk:	angličtina
Zdroj:	Oxford medical case reports [Oxf Med Case Reports] 2021 Dec 28; Vol. 2021 (11-12), pp. omab122. Date of Electronic Publication: 2021 Dec 28 (Print Publication: 2021).
DOI:	10.1093/omcr/omab122
Abstrakt:	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. (© The Author(s) 2021. Published by Oxford University Press.)
Databáze:	MEDLINE
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