Endocrine Abstracts

MEN1 is a rare hereditary tumor syndrome characterized by a predisposition to a multitude of endocrine neoplasms primarily of parathyroid, enteropancreatic, and anterior pituitary origin and non endocrine tumor. Here we will discuss a case of 36 yrs. old male who was referred for high calcium on routine blood test. Subsequent investigations confirmed primary hyperparathyroidism. His serum calcium level was 2.71, PTH 7.5 Pmol/l, and vitamin D 57.4 nmol/l on presentation and was referred to geneticist He is a smoker and his mother was diagnosed with metastatic bronchial carcinoid tumor. Clinically, he was asymptomatic. PMH: includes hypertension which was controlled with amlodipine and Ramipril. Clinical examination was unremarkable with BP 140/80 mmhg. Follow up blood test after one year showed IGF 1 30.5 nmol/l, FSH 5.4 iU/l, LH 2.0 iU/l, testosterone 6.3 nmol/l, SHBG 15 nmol/l, prolactin 390 mU/l, Adjusted calcium 3.03 mmol/l, PTH 6.6 Pmol/l, Phosphate 0.89 mmol/l, and EGFR >90 ml/min. Subsequently genetic was advised by geneticist which showed MEN1: Presence of familial pathologic variant in MEN1 c.76G>T. Full surveillance of MEN1 was advised in genetic clinic. Subsequently MRI pancreas, abdomen, and thorax showed Couple of small foci of DWI high signal within pancreatic tail. Pancreatic protocol CT +- Endoscopic ultrasound was suggested which showed within pancreatic tail there was approximately 1-1.2 cm enhancing lesion—appearances were consistent with small neuroendocrine tumour. MRI pituitary showed no pituitary gland lesion. Further biochemical tests including gut hormone profile and octreotide scan is still waiting. This case illustrates the importance of screening for MEN1 in young patient with hypercalcemia related to primary hyperparathyroidism with positive family history of MEN1 related tumors. Early surveillance with regular biochemical test and imaging can help early diagnosis of MEN1 related tumor and reduce morbidity/mortality.