Endocrine Abstracts

Section 1: Case history An 86 year old female presented to hospital after being found on the floor and had profound lower limb oedema. She was treated for a urinary tract infection and possible heart failure. On examination she had significant hirsutism and bruised skin. She had a past medical history of BCC removal and primary hyperparathyroidism. Her ECOG performance status was 1–2. There was a family history of pancreatic cancer (father) and pancreatic neuroendocrine tumour (niece).

Section 2: Investigations Her 1–mg overnight dexamethasone test demonstrated a cortisol of 505 nmol/l. Her other biochemical test demonstrated: serum androstenedione 99.8 nmol/l (2–5.4), DHEAS >40.7 umol/l (0.7–12.5), total testosterone was 26.3 nmol/l (0.101–1.42), SHBG at 21 nmol/l (17.3–125) and albumin 30 g/l (35–52). Her electrolytes and urinary metadrenalines were normal. 24 hour urinary steroid profile was consistent with an adrenocortical carcinoma (ACC). Her adjusted calcium was 3.10 mmol/l (2.20–2.55) and her plasma PTH was elevated at 7.36 pmol/l (1.6–6.9). Serum NT pro-BNP was 8121 pg/ml (0–738). Ultrasound of her urinary tract found a 191 mm heterogenous mass in the right upper quadrant. This was further characterised with a CT chest, abdomen and pelvis confirmed a 19.2 x 10.1 cm suprarenal mass with a necrotic centre with liver involvement and partial inferior vena cava compression. Echocardiogram demonstrated normal LVEF of 55–60%.

Section 3: Results and treatment Patient was diagnosed with ACC with biochemical evidence of cortisol and androgen excess. Her case was discussed at the specialist MDT. It was recommended to start prophylactic low molecular weight heparin. Given her functional status, it was felt that surgical resection of the lesion was not appropriate. She was started on Mitotane. Genetic testing for multiple endocrine neoplasia type 1 (MEN1) was also undertaken due to her family history and past medical history. Section 4: Conclusions and points for discussion ACC are rare but aggressive tumours. They can present as an incidental finding or an abdominal mass or rapid progressing Cushing syndrome with or without virilisation. Our patient had rapid virilisation but only some clinical features of Cushing’s syndrome. Surgery is the mainstay treatment option for ACC. However, our patient was not a candidate for surgical resection was started on Mitotane. This will act on the adrenal gland to shrink the tumour, prevent its progression and block excess cortisol and testosterone. The majority of ACC are sporadic. However, it is important to consider ACC can develop as a part of familial disease like MEN1.