Multiple endocrine neoplasia type 1 and adrenal Cushing's

A 35-year-old man presented to his general practitioner with hypertension in February 2006. During routine investigations he was noted to have mildly deranged liver function [ALT 59 IU/ L (8–40 IU/L), GGT 178 IU/L (10–50 IU/L)] and an ultrasound scan showed mild fatty infiltration and bilateral renal calculi. He was referred to the urology department for investigation of renal stones and a CT intravenous urogram showed multiple renal calculi and a 6×5×5 cm soft tissue enhancing lesion within the right adrenal gland and a 7 mm calcified density within the body of the pancreas (Figure 1). He was therefore referred to our endocrinology department for further diagnostic work-up. On examination he had centripetal obesity, gynaecomastia and facial plethora. His initial blood tests revealed elevated calcium of 3.03 mmol/L (2.1–2.5 mmol/L) associated with an elevated PTH of 27.5 pmol/L (1.5–7 pmol/L). Baseline pituitary profile revealed raised prolactin of 1143 mU/L (80–400 mU/L) with normal thyroid and sex hormone levels. MRI scan of the pituitary demonstrated a focal 7 mm non-enhancing abnormality seen in the left side of the pituitary gland in keeping with a small microadenoma (Figure 2). An overnight dexamethasone suppression test and low dose dexamethasone suppression tests were both positive, with suppressed basal ACTH (Table 1). His 24-hour catecholamine excretion, renin-aldosterone ratio and fasting gut hormone profile were normal. The above investigations led us to conclude that he had adrenal Cushing’s associated with primary hyperparathyroidism and a pituitary microadenoma. His adrenal Cushing’s was treated first in July 2008 by laparoscopic adrenalectomy confirming a glucocorticoid adenoma. His sesta Mibi parathyroid scan revealed increased uptake in the left inferior position suggestive of parathyroid adenoma, but there was also delayed uptake in the other three parathyroid glands. He therefore had a four gland parathyroidectomy in December 2008 which confirmed parathyroid hyperplasia. The combination of parathyroid hyperplasia and pituitary microadenoma was suggestive of MEN Type 1. This was confirmed by genotype testing which showed the presence of a C to T nucleotide substitution of exon 4 of MEN 1 (c.781C> T). He has been referred on to the regional MEN clinic for family screening.