Adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome is rarely caused by a pheochromocytoma. We present a case of a 46-year-old woman who developed severe hypertension, hypokalemia, and typical Cushingoid features. Investigations revealed extremely high metanephrine, cortisol, and ACTH levels. Imaging showed a 3.8-cm left adrenal mass. Preoperative control of hypertension and hypokalemia was very challenging. The patient was cured after surgical removal of the adrenal mass. We followed this by a review of the literature using the databases Google Scholar and PubMed. A total of 58 cases have been reported to date. In summary, ACTH-producing pheochromocytoma is a rare condition that poses a clinical challenge in the perioperative period. It is important that physicians be aware of such a condition because early recognition and treatment are crucial to decrease morbidity and mortality.
Objective:To describe the effect of hemoglobin Wayne variant on hemoglobin A1c (A1c) accuracy and to stress the importance of patient-physician communication and trust.Methods: We present the clinical history and laboratory findings of 2 patients, with a review of related literature.Results: Two older patients were diagnosed with diabetes mellitus (DM) and suffered from frequent hypoglycemia resulting from titrating their diabetes medications based on an extremely elevated A1c (>11% [97 mmol/ mol]) obtained through high-performance liquid chromatography. Discrepancies were noticed between their blood glucose logs and their A1c results. Ultimately, both were found to have heterogenous hemoglobin Wayne variant by hemoglobin electrophoresis. Repeat immunoassay found the A1c to be very low, in the 5 to 6.2% (31 to 44 mmol/ mol) range. One of the patients did not even meet diagnostic criteria for DM.Conclusion: A1c testing is susceptible to misinterpretation due to multiple interfering factors. Hemoglobin variants should be considered as a differential when there are discrepancies between A1c and blood glucose levels.Trust between the patient and the physician is essential in raising clinical suspicion and avoiding potentially lethal outcomes. (AACE Clinical Case Rep. 2019;5:e59-e61) Abbreviations: A1c = glycated hemoglobin; DM = diabetes mellitus; HPLC = high-performance liquid chromatography
Objective: To emphasize the importance of genetic testing of the calcium-sensing receptor (CaSR) in cases where biochemical tests fail to differentiate between primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia (FHH). Methods: We present the clinical history and laboratory findings of a patient and review related literature. Results: A 35-year-old male patient presented with asymptomatic hypercalcemia. His clinical picture and laboratory findings were not consistent with either PHPT or FHH but were more suspicious for FHH. A significant family history of hypercalcemia of unknown cause in his father and uncle along with a strong suspicion of FHH necessitated the genetic testing of CaSR in the patient and his father. Testing revealed a newly identified mutation variant, c.533A>C (p. N178T), that has not been reported previously as a cause of FHH. Conclusion: FHH is a rare, lifelong, benign condition. A combination of clinical suspicion, biochemical testing, and in some cases genetic analysis, is required to differentiate PHPT from FHH and thus spare patients with FHH from unnecessary operative treatment. (AACE Clinical Case Rep. 2018;4:e501-e504) Abbreviations: AP2S1 = adaptor-related protein complex 2, sigma 1 subunit; CaSR = calcium-sensing receptor; FHH = familial hypocalciuric hypercalcemia; Gα11 = G-protein subunit α11; OMIM = Online Mendelian Inheritance in Man; PHPT = primary hyperparathyroidism; PTH = parathyroid hormone; RR = reference range; UCCR = urinary calcium to creatinine clearance ratio e502 Calcium-Sensing Receptor Mutation, AACE Clinical Case Rep. 2018;4(No. 6)
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