Endocrine Abstracts

Case description: A 25-year-old male was admitted to the Intensive Care Unit due to progressive muscle weakness, difficulty walking, weight loss, headache, chest discomfort, type 1 diabetes for few months. He was confused and irritated, with “moon” face, facial plethora, acne, and hyperpigmentation of the skin, few obscure red-bluish striae and significant wasting of proximal and distal muscles of lower limbs. Cortisol hypersecretion due to ectopic ACTH production was confirmed by plasma ACTH (>1250 ng/l) and cortisol (1120–2145 nmol/l), 24-h urinary free cortisol (14 726 nmol/24 h), failure to supress cortisol on a high dose intravenous and 16 mg oral 2 days dexamethasone suppression tests. Severe hypercortisolemia resulted in critical fluid and electrolyte imbalance, deterioration in physical and mental state. Daily Etomidate infusion 20–60 mg for 14 days stabilized condition and later was used for treatment on alternate days in the dose of 20–40 mg for 10 months in day care clinic. Alternative treatment with Ketoconazole induced hepatic injury, Octreotide was ineffective, Metyrapone was not available. Following Etomidate infusions, plasma cortisol decreased to 280–560 nmol/l, potasium – 3.7–4.3 mmol/l with oral supplementation of KCl 3 g/day and Spironolactone 50 mg, glucose became normal without insulin. In 10 months Metyrapone became available and 1 g/day was used to achieve control. Patient refused from adrenalectomy.

Pituitary MRI, chest and abdomen CT, somatostatin receptor scintigraphy, bronchoscopy, esophagogastroduodenoscopy, colonoscopy revealed no potential source of ectopic ACTH production. Further assessment by whole body 18F-FDG PET-CT and 68Ga-DOTATOTE PET-CT scans, selective sinus petrosus inferior sampling and enteroscopy failed to detect the source of ACTH. Thorax CT and colonoscopy was performed three times, abdominal CT and pituitary MRI – twice during 16 months. Primary tumour was not detected.

Conclusion: Etomidate infusion could be used for long term treatment of ectopic ACTH syndrome when other options are ineffective or unavailable.