Hyperparathyroidism Jaw-Tumor Syndrome: A Case Report From a Radiological View

Limited formal guidelines, scarcity of cases, and variable manifestation forms all contribute to the challenges of diagnosing hyperparathyroidism-jaw tumor (HPT-JT) syndrome. This condition characterized by parathyroid tumors, fibro-osseous jaw tumors, and renal and gynecological pathologies results in significant morbidity, restricted functionality, and malignancy risk. Genetic testing is the gold standard investigation to evaluate for CDC73 mutations, that cause HPT-JT syndrome. Genetic testing for CDC73 mutations should be encouraged among family members of affected individuals. Surgery is the mainstay of treatment for many of the encountered pathologic entities. We report a 42-year-old female with a history of infertility and right subtrochanteric femoral fracture secondary to osteoporosis. The patient was suspected to have primary hyperparathyroidism secondary to parathyroid adenomas that were later biochemically and scintigraphically proved with subsequent partial parathyroidectomy. One and a half years following the initial presentation, the patient developed gradual swelling of the lower face with regional osseous involvement in addition to the clinical and radiological picture of recurrent parathyroid adenoma. We present this rare diagnosis of HPT-JT syndrome to promote awareness among physicians regarding this essential differential diagnosis. A low threshold for genetic testing and a high index of suspicion for HPT-JT syndrome must be kept in cases of patients presenting with high parathyroid hormone levels and masses. The screening must extend to all the family members as well. With this approach, the high morbidity, facial disfigurement, and significant malignancy risk can be lowered in the affected individuals improving their life expectancy.