Endocrine Abstracts

Introduction: Although ectopic ACTH syndrome (EAS) is most commonly seen in cancers with neuroendocrine differentiation, it is not a common condition in germ cell tumors. Here we report a rare case of EAS due to metastatic germ cell tumor.

Case report: A 53-year-old male patient presented with fatigue, weakness, swelling in both legs and weight loss for 3 months. He had type 2 diabetes and no history of smoking or alcohol. In the physical examination, there were aphthous lesions in the mouth, widespread hyperpigmentation on the skin and pitting edema of the feet. In laboratory results hyperglycemia, severe hypokalemia and elevation in cholestasis enzymes were observed. Abdominal computerized tomography showed multiple metastatic masses and lymph nodes in the abdomen, the largest of which was in the liver. Needle biopsy of the liver mass resulted in metastatic germ cell tumor metastasis. No focus was detected in the imaging performed for primary focus scanning. Hypercortisolemia was found in the examinations performed due to severe hypokalemia resistant to treatment (Table 1). As a result of further investigations, although ACTH staining was negative in the immunohistochemical examination, the patient was considered to have EAS due to metastatic germ cell tumor, since it was clinically compatible. The patient was started on bleomycin-etoposide-cisplatin-based antineoplastic therapy for metastatic germ cell tumor and a steroid synthesis inhibitor was started for the treatment of hypercortisolemia. After 4 cycles of chemotherapy, the cortisol level was determined as 2.93 μg/dl because the patient had symptoms such as weakness, loss of appetite and hypotension. Adrenal insufficiency developed with the inhibition of steroidogenesis and control of the ACTH secreting focus with antineoplastic therapy. Therefore, the steroid synthesis inhibitor was discontinued and hydrocortisone replacement was started. It was planned to continue antineoplastic therapy until complete remission was achieved.

Conclusion: When EAS is detected, identification and treatment of the ACTH-secreting focus is important in achieving remission. It should be kept in mind that immunohistochemical ACTH staining may be negative in metastatic foci. This case taught us that the etiology of hypercortisolemia should be addressed with a broad perspective and a multidisciplinary approach.