Endocrine Abstracts

A 59 year old lady attended endocrinology clinic for her annual review. She had presented at the age of 28 years with symptomatic hypoglycaemia. She was diagnosed with an insulinoma and underwent resection of the tail of the pancreas. She was concurrently found to be hypercalcemic and underwent two gland parathyroidectomy. Genetic testing confirmed a heterozygous frameshift mutation in exon 3 of the MEN1 gene (c.628_631 del.) and a diagnosis of multiple endocrine neoplasia type 1 was made. Over the past three decades she has been diagnosed with two malignant melanomas and a breast fibroadenoma, which have been associated with MEN1. She also has gastric varices. She has four children, two of whom have tested positive for MEN1. At her latest review pancreatic MR imaging demonstrated two stable islet cell tumours. Chromogranin A had risen from 20 to 86 pmol/l over 3 years, associated with a rise in gastrin from 287 to 2354 pmol/l in 1 year. The patient’s symptoms were well controlled on omeprazole 40 mg bd. The patient remained persistently hypercalcaemic (Corr Ca++ 2.9 mmol/l, PTH 8.1 pmol/l) and was asymptomatic. She had no evidence of renal calculi on ultrasound imaging and DEXA scan showed osteopaenia of the femoral neck and lumbar spine. She drinks a minimum of 2.5 l of water per day and takes vitamin D supplements. Pituitary MRI and biochemistry were normal. As part of the new screening guidelines the patient underwent chest imaging which showed progressive nodular CT change, associated with modest uptake on FDG-PET and reduced transfer factor (80% predicted). This is thought to represent diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH). Biopsy would only be possible via a VATS procedure and as the patient has no respiratory symptoms she will be monitored with serial CT scans. She has been referred for a gallium dotatate PET. This case demonstrates the multiple endocrine and other tumours associated with the MEN1 syndrome. It also demonstrates the radiological appearances of DIPNECH, a rare condition considered to be a precursor of peripheral carcinoid tumours.