Endocrine Abstracts

Section 1: Case history: A 55 year old female patient sought review from her GP due to ongoing fatigue, muscle weakness, scalp hair thinning, weight gain and fluid retention. This had been ongoing for a few months and she was started on HRT. Initially she saw an improvement however her relief from symptoms was short lived. 5 months later she noticed a rash which was described as purpuric. A relative described her as having a “moon face” which prompted further review from the GP.

Section 2: Investigations: As an outpatient, 2 urinary cortisol levels were 810nmol/24h and 1657 nmol/24h. A dexamethasone suppression test showed inadequate suppression of cortisol (876 nmol/l). A urinary tract ultrasound revealed an irregular, heterogenous mass from the left kidney and hyperechoic lesions throughout the liver suspicious for metastases. Dedicated CT imaging showed a large 14 cm left sided renal mass concerning for an underlying renal cell carcinoma (RCC). She was admitted to hospital after having a collapsing episode – it was determined this was likely a vasovagal from the history but she was found to be hypokalaemic with a metabolic alkalosis, raising the suspicion of a cortisol/ACTH secreting tumour. This prompted further inpatient testing.

Section 3: Results and treatment: Further tests were performed, with an androstenedione level of 9.7 mol/l and DHEAS 64.0 mol/l. Conclusive diagnosis was gained from a renal biopsy specimen, which revealed this was actually an adrenal cortical carcinoma (ACC) rather than an RCC. Inhibin, Melan A, SF1 positive (negative for pancytokeratins, cytokeratin 7, RCC marker, PAX 8, c-kit, CD10, synaptophysin, chromogranin, S100, PLAP, Oct 3/4, Calretinin, oestrogen receptor and hepatocyte specific antigen. Patchy staining for EMA and Gata 3. Unfortunately, given the metastatic disease this patient”s prognosis is very poor. She has been started on metyrapone however is for best supportive care.

Section 4: Conclusions and points for discussion: Patients with ACC will usually present in one of three ways. In approximately 10% of patients, an adrenal mass is found as an incidentaloma. Around 30% patients present with symptoms of a mass prompting further investigations without clinical findings of hypersecretion. Most commonly (~60%) there are clinical symptoms suggesting hypersecretion from the adrenal gland. Aldosterone secretion which results in hypertension and hypokalemia is rare in ACC. It is more likely that the mineralocorticoid effects are being caused by high cortisol levels or steroid precursors such as 11-deoxycorticosteroine.