Primary normocalcemic hyperparathyroidism is a misunderstood medical condition

Abstract

Primary normocalcemic hyperparathyroidism is defined by elevated concentrations of parathyroid hormone (PTH), normal serum calcium and absence of other causes of PTH elevation, its pathophysiology is due to tissue resistance to the effect of PTH. The objective is to present an underdiagnosed pathology regarding diagnosis and treatment. A 25-year-old man, university student, regular alcohol consumption, smoking three cigarettes a day for 5 years, paternal grandmother with rheumatoid arthritis, maternal grandmother with arterial hypertension, with a three-year history of emergency admissions for urinary calculi, associated with pain in the right hip, knee and neck of the foot, he received analgesic treatment without improvement, due to radiographic findings, PTH disorder was studied. Laboratory tests showed elevated PTH concentrations, normal calcium levels, low serum phosphorus, increased concentration of 1,25-dihydroxy vitamin D and hypercalciuria. Imaging: normal ultrasound, normal scintigraphy, normal computed tomography, normal magnetic resonance imaging, normal positron emission tomography. The genetic study ruled out multiple endocrine neoplasia. Bone densitometry, reported osteopenia, required exploratory surgical approach: the primary adenoma was located in the left parathyroid lobe, resection was performed, anatomopathological study confirmed the diagnosis. Subsequently she received vitamin D supplementation for 6 months. The patient presented an adequate evolution and continues to be followed up periodically by endocrinology. Primary hyperparathyroidism is currently a common endocrinopathy, which requires timely attention, because it can leave serious sequelae in the body or cause death.