Clinico-radiological findings of men 2A syndrome and its genetic correlation: A case report with review of literature

Abstract

Multiple endocrine Neoplasia (MEN) is a rare inherited syndrome that occurs due to the RET (rearranged in trans infection) germline mutation. MEN 2a is more frequent followed by FTC and MEN 2B occurs less frequently. In this case report, we present a case of a 31-year-old female who presented with neck swelling and hypertension and was diagnosed with bilateral pheochromocytomas and medullary carcinoma of the thyroid. Genetic analysis identified heterozygous RET mutation and was consistent with MEN 2 A in exon 11. The patient underwent bilateral adrenalectomy, and medical management was given for medullary thyroid carcinoma.

Keywords

• Multiple endocrine neoplasia
• Rearranged in translocation
• Medullary carcinoma of thyroid