Endocrine Abstracts

Introduction: Primary hyperparathyroidism (PHPT), as a state of chronic hypercalcemia, can be manifested by non-typical symptoms which can delay the proper diagnosis for many years and lead to serious preventable complications affecting the patient’s quality of life.

Case report: A 52-year-old woman with hypertension, thyroid nodular goiter treated with radioactive iodine and a 20-year history of gastric and duodenal ulcerative disease, complicated by gastric perforation in 2002 and bleeding from duodenal ulcers in 2019, was admitted to the hospital in January 2020 due to general and muscle weakness and ongoing diarrhea for many years resolving only after PPI treatment, which made her incapable of working. Laboratory tests revealed serum concentrations of calcium 3.04 mmol/l (2.10-2.55), phosphate 0.68 mmol/l (0.74–1.52), urinary calcium 14.76 mmol/24 h (2.50-7.50), serum concentrations of PTH 282.8 pg/ml (15.0-68.3), alkaline phosphatase 120 IU/l (37-123). Other relevant laboratory findings were: serum concentrations of gastrin 735 ng/l (13-115) and chromogranin A 1597.67 ng/ml (<100), and normal renal and thyroid function. Neck ultrasound showed a hypoechoic, marginal vascularized lesion 7x6x10mm behind the right thyroid lobe. In a further step, fine needle aspiration and 99 Tc-sestamibi scan were performed, confirming the presence of a single parathyroid adenoma in this location. Moreover, a compression fracture of the L2 vertebra (asymptomatic) and bilateral adrenal tumors, but no renal stones or pancreatic lesion, were detected in abdominal CT. Osteoporosis was confirmed in DEXA. Somatostatin receptor scintigraphy (SRS) did not detect any abnormalities. After excluding pheochromocytoma, the patient underwent parathyroidectomy. However, after surgical treatment, persistent hypercalcemia (2.71mmol/l) and elevated PTH level (378.9 pg/ml) were observed. Conventional imaging, such as neck CT and MRI, 99 Tc-sestamibi scan did not show the localization of the lesion. The diagnostics was extended by performing 18F-fluorocholine PET/CT and revealed hyperfunctioning parathyroid tissue of 8mm in size, between the C7 vertebra and the esophagus. The patient required reoperation, which was followed by the development of hypoparathyroidism, although the peptic ulcer disease and persistent diarrhea resolved spontaneously. Considering the presence of bilateral adrenal tumors, multiple parathyroid adenomas and PPI-dependent diarrhea, a genetic test was performed, confirming multiple endocrine neoplasia type 1 (MEN 1).

Conclusions: The presented case shows how difficult and long the process from first symptoms to proper diagnosis could be. Recurrent peptic ulcers should always prompt to look for secondary causes, especially PHPT.