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CASE REPORT
Year : 2016  |  Volume : 5  |  Issue : 1  |  Page : 52-55

Multiple endocrine neoplasia-2A-revisited


1 Department of Surgical Oncology, Sri Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh, India
2 Department of Pathology, Sri Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh, India
3 Department of Endocrinology, Sri Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh, India
4 Department of Radiology, Sri Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh, India

Correspondence Address:
Dr. Rashmi Patnayak
Department of Pathology, Sri Venkateswara Institute of Medical Sciences, Tirupati - 517 507, Andhra Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2278-0513.172075

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Multiple endocrine neoplasia-2A (MEN-2A) is a rare syndrome. MEN-2 is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism. MTC is the most consistent feature in all subtypes of MEN-2. In MEN-2A, approximately 70–95% of individuals develop MTC, 50% develop pheochromocytoma, and 15–30% develop hyperparathyroidism. Identification of a germline REarranged in transfection mutation or the identification of the clinical features of MEN-2A in other first-degree relatives is required to make the diagnosis, in those patients with only one or two clinical features. We present the case of a family with MEN-2A syndrome. Here, the patient was first operated for MTC and following further investigation was detected to have pheochromocytoma. In her family history, she had a daughter who was earlier operated for MTC. After 5 years of follow-up, she is doing well. This is an additional case of MEN-2A.


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