Endocrine Abstracts

A 38 year old man was referred by his GP to the endocrinology clinic to investigate mild hypercalcemia and hyperparathyroidism. He had a history of recurrent kidney stones and had 3 1/2 parathyroid glands removed more then 10 years before. He also had a strong family history of hypercalcemia and hyperparathyroidism affecting his mother and 2 siblings (an older brother and a younger sister), none of them under regular specialist follow-up. The patient initially reported no family history of neuroendocrine tumours or pituitary tumours. The family had never been offered a genetic test. Patient’s biochemical and hormone investigations showed a high normal albumin adjusted calcium of 2.6 mmol/litre with inappropriately elevated PTH 7.1 pmol/litre. The genetic test confirmed a genetic diagnosis of MEN1 syndrome. Patient’s mother aged 60 had a history of hypercalcemia and hyperparathyroidism with 2 parathyroid surgeries more than 20 years before. She had a low, but detectable PTH and was treated with alfacalcidol and Adcal-D3 for hypocalcaemia. She had a recent presentation with acute bowel obstruction and was diagnosed with metastatic bowel NET. During the first consultation in the endocrine clinic she disclosed that her father also had hyperparathyroidism and died of a brain tumour and that her paternal uncle died of pancreatic tumour. The genetic test confirmed a genetic diagnosis of MEN1. The patient was commenced on Somatostatin analogues and later on Lu Dotatate PRRT. Unfortunately she passed away a couple of months later after developing small bowel obstruction. Patient’s brother aged 42 had a history of hypercalcemia and hyperparathyroidism and had a right lower parathyroid adenoma removed in 2004. He had a history of kidney stones and fibrous tumours removed from the nose and scalp. He has 2 children aged 8 and 11. The genetic test confirmed a genetic diagnosis of MEN1. This patient was referred to Guy’s Genetic department for counselling regarding genetic testing for his children. Patient’s sister aged 35 had a history of hypercalcemia and hyperparathyroidism with 3 1/2 parathyroid glands removed 15 years before (parathyroid hyperplasia). Biochemical and hormone investigations showed an albumin adjusted calcium of 2.4 mmol/litre and an elevated PTH 14 pmol/litre. The genetic test confirmed a genetic diagnosis of MEN1. Further hormone investigations showed an elevated glucagon and an unsuppressed cortisol after overnight dexamethasone. The abdominal imaging reported multiple small pancreatic cysts compatible with neuroendocrine tumours. The patient was started on Somatostatin analogues. She was referred to Guy’s genetics clinic for counselling regarding genetic testing for her 2 children. All 3 surviving patients continue to have regular hormone and imaging investigations according to MEN1 management guidelines.