RESUMEN
Pheochromocytoma rarely presents with unexplained hypokalaemia, although there are some case reports in the literature. The mechanism behind this could be the increased cellular potassium uptake promoted by beta-2-adrenoreceptor hyperactivation and insulin resistance. We present the case of a 68-year-old hypertensive female patient with a unilateral adrenal mass discovered on angio-CT and typical signs of adrenergic hyperstimulation (hypertensive crisis, headache, and sweating) associated with multiple arrhythmic episodes but with normal plasma and urinary catecholamine levels. During the work-up for hormonal hypersecretion and the cessation of anti-aldosterone medication, the patient presented resistant hypokalaemia. Due to uncorrectable hypokalaemia, we were unable to perform hormonal investigations for primary hyperaldosteronism and referred the patient for laparoscopic adrenalectomy. The histological diagnosis revealed left pheochromocytoma. Postoperatively, the patient experienced rebound hyperkalaemia. In a patient with a unilateral adrenal mass and hypokalaemia, besides primary hyperaldosteronism and adrenocorticotropic hormone-independent hypercortisolism, a possible pheochromocytoma should be ruled out as well by the clinician before surgery.
RESUMEN
PURPOSE: Medullary thyroid carcinoma (MTC) in MEN2B syndrome is associated with germline RET mutation. Patients harboring de novo mutations are usually diagnosed at more advanced disease stages. We present a young woman with Met918Th mutation diagnosed with stage IV MTC at age 10 years. METHODS: The disease progressed despite total thyroidectomy and multiple surgical interventions for cervical lymph node recurrences, leading to distant metastases in the fifth year after the initial diagnosis. Subsequently, she underwent five different types of tyrosine kinase inhibitor (TKI) treatments. The 17-year disease course was divided into periods defined by four surgical interventions and sequential treatment intervals with four multikinase (sunitinib, vandetanib, cabozantinib, and lenvatinib) and one RET-selective TKI (selpercatinib). Tumor growth for different phases of spontaneous development and drug treatment intervals was characterized by changes in serial log-transformed calcitonin measurements (n = 114). RESULTS: Three operations (one for calcitonin-producing adrenal pheochromocytoma) were associated with drops in calcitonin levels. All of the nonselective TKIs were stopped due to adverse effects. As reflected by the negative calcitonin doubling rate, the best treatment response was observed with selpercatinib, which was associated with an initial large drop followed by a decreasing calcitonin trajectory over 514 days without any major side effects. CONCLUSION: This case of MEN2B medullary thyroid cancer with long-term survival presents how the effectiveness of different treatment modalities can be estimated using log-transformed calcitonin levels. Furthermore, our experience supports the view that serial calcitonin measurements may be more sensitive than radiological follow-up in advanced MTC. Our patient also represents a new case of rarely reported calcitonin-producing pheochromocytomas.