Endocrine Abstracts

Introduction: Mutations on menin gene are associated with multiple endocrine neoplasia type 1.

Case report: Thirty-five year-old male patient was admitted to our hospital with history of recurrent syncope episodes for 5 years which were attributed to hypoglycemia. In physical examination, he had obesity and multiple papillamatous skin lesions on his abdominal region. He had no family history of similar symptoms. His laboratory eveluation was consistent with insulinoma. There were three pancreatic masses found on CT, two pancreatic masses found on Ga68 DOTANOC scintigraphy. After selective arterial calcium stimulation, there were increased insulin secretion found in the uncinate process and the tail of the pancreas.

In addition serum calcium and parathyroid hormone levels were elevated. Parathyroid lesions in the inferior part of the right and left thyroid gland were detected both with ultrasonography and MIBI scintigraphy. Pituitary hormone levels were at normal range. The skin lesions were diagnosed as fibroepithelial polips with excisional biopsy. He was diagnosed as multipl endocrine neoplasia type 1 including insulinoma, primary hyperparathyroidism and skin lesions.

Subtotal parathyroidectomy was performed which showed hyperplasia of parathyroid glands. Then, a distal subtotal pancreatectomy with enucleation of the mass located in the uncinate process was performed. Histopathology showed nine discrete insulinoma focuses. Genetic analyses showed a novel two base-paired deletion mutation as c.284 del CT heterozygote mutation on MEN1 (menin) gene that can be associated with multiple endocrine neoplasia type 1. After 6 months, he is on insulin therapy without any hypoglycemic episodes.

Conclusion: Here we report a novel case of c.284 del CT heterozygote mutation on menin gene that can be associated with multiple endocrine neoplasia.