Endocrine Abstracts

Introduction: Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant condition characterized by the presence of a medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. The germ-line mutations of the RET proto-oncogene cause MEN2A. Specific RET mutations correlate with the onset of age and the aggressiveness of the disease. It has been reported that polymorphisms of RET may have a modifier effect on the presentation.

Case report: We experienced a case of 27-year-old woman who presented with palpitation and orthostatic hypotension and was diagnosed with bilateral pheochromocytoma. On evaluation, each one medullary thyroid carcinoma in both thyroid lobes and a parathyroid adenoma were found. Genetic testing detected a mutation in codon 634 (C634A, 1900T>C) at exon 11 and a polymorphism in codon 769 (L769L, 2307T>G) at exon 13 of the RET proto-oncogene. Her father died in a car accident in youth. Her mother remembered patient’s aunt (father’s sister) living in Canada, had never seen, had total thyroidectomy in youth.

Conclusion: Patients of MEN2A with a C634A mutation and a L769L polymorphism in RET proto-oncogene may be presented in younger age and have poor prognosis.