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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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
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author Johns, Allison M
Vuong, Angela H
Hassan, Omer A
Randle, Reese W
Gorris, Matthew A
author_facet Johns, Allison M
Vuong, Angela H
Hassan, Omer A
Randle, Reese W
Gorris, Matthew A
author_sort Johns, Allison M
collection PubMed
description 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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spelling pubmed-87135862022-01-04 Multiple endocrine neoplasia 2A presenting in a family with a history of Hirschprung’s disease Johns, Allison M Vuong, Angela H Hassan, Omer A Randle, Reese W Gorris, Matthew A Oxf Med Case Reports Case Report 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. Oxford University Press 2021-12-28 /pmc/articles/PMC8713586/ /pubmed/34987852 http://dx.doi.org/10.1093/omcr/omab122 Text en © The Author(s) 2021. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Johns, Allison M
Vuong, Angela H
Hassan, Omer A
Randle, Reese W
Gorris, Matthew A
Multiple endocrine neoplasia 2A presenting in a family with a history of Hirschprung’s disease
title Multiple endocrine neoplasia 2A presenting in a family with a history of Hirschprung’s disease
title_full Multiple endocrine neoplasia 2A presenting in a family with a history of Hirschprung’s disease
title_fullStr Multiple endocrine neoplasia 2A presenting in a family with a history of Hirschprung’s disease
title_full_unstemmed Multiple endocrine neoplasia 2A presenting in a family with a history of Hirschprung’s disease
title_short Multiple endocrine neoplasia 2A presenting in a family with a history of Hirschprung’s disease
title_sort multiple endocrine neoplasia 2a presenting in a family with a history of hirschprung’s disease
topic Case Report
url 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
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