Multiple Endocrine Neoplasia Type 2A: Case Report

Multiple endocrine neoplasia type 2A (MEN 2A) is a complexautosomal dominant inherited syndrome characterized bymedullary thyroid carcinoma (MTC), pheochromocytoma andprimary parathyroid hyperplasia. In patients with only one ortwo clinical features, identification of a germline RET(REarranged in Transfection) mutation or the identification ofthe clinical features of MEN 2A in other first degree relatives isrequired to make the diagnosis. We present the case of afamily with MEN 2A syndrome confirmed by geneticanalysis which identified RET gene mutation in 634 codonin father - DV - aged 48 years and also in daughter DM -aged 20 years. The specific feature in this case is that the indexcase was the daughter (diagnosed and operated for pheochromocytomaat the age of 19 years), the father beingdiagnosed later with medullary thyroid carcinoma by mutationalscreening in all family members. This family supportsthe phenomenon of anticipation, in which severity increasesand the age of onset decreases in successive generations, thesyndrome being discovered earlier and with a worse prognosticin the daughter.

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