A rare case of ectopic ACTH syndrome originating from malignant renal paraganglioma

SUMMARY Ectopic adrenocorticotropic hormone (ACTH) syndrome is characterized by hypercortisolism due to the hypersecretion of a non-pituitary ACTH-secreting tumor leading to Cushing's syndrome. Only a few cases have been reported previously as causing ectopic ACTH related to paraganglioma. Herein, we present a case of Cushing's syndrome, in who was proved to be attributable to an ACTH-secreting renal malignant paraganglioma. A 40-year-old woman presented with a five-month history of newly diagnosed hypertension and diabetes, weakness, hyperpigmentation, oligomenorrhea, hirsutism, and acneiform lesions. She showed cushingoid features, including moon face, facial hirsutism, facial and truncal acne, hyperpigmentation, and severe muscle weakness of the limbs. She did not have other findings such as striae, supraclavicular fat accumulation, and buffalo hump. Laboratory examination showed the presence of hypopotasemia, hyperglycemia, hyperthyroidism, and leukocytosis. The serum levels of ACTH, cortisol, and urine-free cortisol were markedly elevated. Results of an overnight 2-mg dexamethasone suppression test included a basal serum cortisol of 61.1 mcg/dL (normal range: 4.6-22.8 mcg/dL) and a cortisol value of 46.1 mcg/dL after dexamethasone administration. There was no suppression found after 2-day 8-mg dexamethasone administration. Magnetic resonance imaging (MRI) of the pituitary gland indicated two microadenomas. An abdominal MRI scan revealed horseshoe kidney, bilateral adrenal hyperplasia, and masses with dimensions of 35 x 31 mm in the left kidney. Inferior petrosal sinus sampling showed no evidence of a central-to-peripheral gradient of ACTH. A positron emission tomography/computed tomography scan showed intense increased activity in the lower pole of the left kidney. Left adrenalectomy and left partial nephrectomy were performed. The resected tumor was diagnosed as the ACTH-secreting paraganglioma in the pathological examination, which was confirmed by immunohistochemical studies with chromogranin A, synaptophysin, and ACTH. Only a few cases of paragangliomas as a cause of ectopic ACTH syndrome have been reported. To our knowledge, this is the first case of renal paraganglioma resulting in Cushing's syndrome due to ectopic ACTH hypersecretion.

Sindrome de secreción ectópica de ACTH por un carcinoma de células en avena del pulmón / Ectopic ACTH syndrome with an oat-cell carcinoma of the lung

Se presenta el caso de una mujer de 48 años quien ingresa al Hospital Universitario San Ignacio por un cuadro de posible compresión medular a nivel de T10. Por la facies cushingoide, una diabetes mellitus de reciente comienzo y el antecedente de un tumor de mediastino anterior resecado un año antes, se sospechó un síndrome de secreción ectópica de ACTH que se confirmó al demostrar niveles de cortisol superiores a 1,600 nmol/L, aún bajo supresión con 8 mg de dexametasona. Falleció 10 días más tarde en shock hipovolémico e insuficiencia respiratoria, habiendo presentado hipokalemia pertinaz con niveles de potasio que bajaron hasta 1.6 mEq/L. En la autopsia se encontró un tumor pequeño de células en avena en el lóbulo medio del pulmón, con metástasis a pleura, pericardio, diafragma, hipófisis y suprarrenales que además estaban francamente hiperplásicas. A nivel medular se encontró una hidromielia. Se discuten las características clínicas y paraclínicas del síndrome de secreción ectópica de ACTH con especial referencia al carcinoma de células en avena y se revisan nuevos conceptos respecto a la secreción de hormonas por estos tumores