Hyper parathyroidisim jaw tumor syndrome: a rare condition of incongruous features

Abstract

Background: Hyperparathyroidism-Jaw Tumor (HPT-JT) syndrome is a rare genetic disorder bearing both a germline and a somatic CDC73 mutation (formerly known as HRPT2), which has been mapped to chromosome 1q25-q31. The association of jaw ossifying fibroma with primary hyperparathyroidisim (PHPT) is typical of HPT-JT. It may also include cystic and neoplastic renal abnormalities and uterine tumors.

Case Details: Here, we report a case of HPT-JT with an initial presentation of declination in reproductive fitness. Extensive literature search and thorough investigation helped us parturitate the underlying syndrome, thereby predictively improving the prognosis.

Conclusion: The features of HPT-JT are clinically difficult to ascertain because the parathyroid disease, ossifying fibroma in the jaw and other abnormalities, often occurs asynchronously and may be diagnosed and treated separately.

Keywords: Hyperparathyroidism, HPT-JT, Ossifying fibroma, Syndrome