A Novel Gene Mutation in Hyperparathyroidism Jaw Tumor Syndrome Associated With Ectopic-pelvic Kidney.

A 21-year-old woman presented with polyuria, fragility fractures, and a history of recurrent renal calculi, which was also present in her maternal aunt. Examination revealed an oval palpable mass in the neck. Biochemistry revealed a grossly elevated serum calcium, PTH, and serum alkaline phosphatase with low serum phosphorous, suggestive of primary hyperparathyroidism.