Metastatic Pancreatic Gastrinoma, Severe Primary Hyperparathyroidism, And Adrenal Cushing Syndrome In A Patient With Multiple Endocrine Neoplasia Type 1: An Unusual Presentation And Review Of The Literature

Abstract

Objective: Multiple endocrine neoplasia type 1 (MEN1) has an estimated incidence in the general population of 0.01 to 2.5 cases per 1,000 individuals. Here we report on the case of a 36-year-old female patient with some uncommon aspects of MEN1.Methods: The patient was admitted with primary hyperparathyroidism (PHPT) and suspicion of parathyroid carcinoma, demanding additional exams. Abdominal resonance imaging revealed a left adrenal mass, three pancreatic tumors, and hepatic lesions. Diagnostic workup revealed hypergastrinemia and autonomous production of corticosteroids.Results: The patient was subjected to multiple surgeries: subtotal parathyroidectomy, left adrenalectomy, subtotal pancreatectomy associated with enucleation of a tumor lesion in the pancreatic head, and resection of a hepatic metastasis. The patient's DNA sequencing analysis revealed a frameshift mutation in exon 3 of the MEN1 gene. Her daughter was found to be affected by the same mutation.Conclusion: This case presents three uncommon aspects in MEN1: (1) suspicion of PHPT due to parathyroid carcinoma, (2) the presence of a functioning adrenal adenoma producing Cushing syndrome, and (3) CASE REPORTWe report on the case of a 36-year-old female patient who was admitted in June 2012 with multiple fractures, impaired mobility (felt over a period of 3 months), dehydration, polyuria, constipation, anorexia, and fatigue. Laboratory tests revealed the following: serum calcium = 15.8 mg/dL, inorganic phosphorus = 2.3 mg/dL, alkaline phosphatase = 2,056 U/L, 24-hour urinary calcium = 748 mg/24 hours, and parathyroid hormone (PTH) = 1,475 pg/mL.The patient reported intense heartburn, nausea, vomiting, abdominal pain, occasional diarrhea, periods of menstrual irregularity, and spontaneous galactorrhea. The patient was clinically dehydrated, lethargic, pale, and virtually bedridden.Hypercalcemia was controlled with vigorous hydration and furosemide. The level of PTH on admission combined