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Confusing genes: a patient with MEN2A and Cushing's disease.

Journal article published in 2013 by Auditi Naziat, Niki Karavitaki, Rajesh Thakker ORCID, Olaf Ansorge, Greg Sadler, Fergus Gleeson, Treena Cranston, Ann McCormack, Ashley B. Grossman, Brian Shine
This paper was not found in any repository; the policy of its publisher is unknown or unclear.
This paper was not found in any repository; the policy of its publisher is unknown or unclear.

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Abstract

We report a patient with Cushing's disease and primary hyperparathyroidism who subsequently developed medullary thyroid carcinoma (MTC) and bilateral phaeochromocytomas. Genetic testing for multiple endocrine neoplasia type 1 (MEN1) was negative, but a characteristic multiple endocrine neoplasia type 2A (MEN2A) RET-mutation was identified. Our case suggests that in patients with Cushing's disease who have other evidence of endocrine neoplasia, if MEN1 is excluded then MEN2 should be considered. © 2012 Blackwell Publishing Ltd.