Introduction: We report the clinical presentation, immunohistochemistry, imaging, histopathology, treatment and outcome of a patient with ACTH-secreting tumour of liver.
Case report: Cushings Syndrome due to ectopic ACTH production is uncommon and due to neuroendocrine tumour of liver is extremely rare. We discuss the case of a 27-year-old female who initially presented with vague, non-specific symptoms, such as general and muscle weakness, weight gain, hirsutism, increase in fasting blood glucose, in which an ACTH-secreting tumor found to be the cause of her clinical presentation. At admission: Height 166 cm, weight 70 kg. normosthenic constitution, diffusely hyperpigmented skin, darkened skin around elbows, striae on the stomach. Laboratory showed AM cortisol of 1750 mmol/l, PM cortisol more than 1750 mmol/l, 24-h urinary free cortisol more than 6700 nmol/day, AM ACTH level of 211.2 mg/ml, PM ACTH level of 148.0 mg/ml and non-suppression of cortisol with overnight dexamethasone suppression test (1 and 8 mg). Brain MRI showed no pathological changes. CT scan showed tumor of the right lobe of the liver (7.5×6.8×5.8 cm, density 40H). Selective sampling of the lower sinuses showed no gradient. Because of severity of the condition for health reasons she had bilateral adrenalectomy clinical and laboratory signs of hypercortisolism disappeared after surgery, but ACTH level was very high. In 2 months she had right-sided hemihepatectomy. ACTH level next day after surgery was 1 mg/ml. Immunohistochemistry showed primary neuroendocrine tumour, Grade 2. We still observe her 1 year and 8 months and during this period she felt fine and she has a laboratory and clinical remission.
Conclusion: Despite numerous guidelines in diagnosis and treatment of hypercortisolism, there are still diagnosis and treatment mistakes due to rarity and complexity of clinical presentation in ACTH-ectopic syndrome. So, we need to improve the guidelines for diagnosis and treatment of ACTH-ectopic tumors.
17 - 19 Feb 2016
European Society of Endocrinology