A Hyper Parathyroidisim Jaw Tumor Syndrome Rare Condition of Incongruous Features

Abstract

BACKGROUND: Hyperparathyroidism-Jaw Tumor (HPT-JT) syndrome is a rare genetic disorder bearing both a germlineand a somatic CDC73 mutation (formerly known as HRPT2),which has been mapped to chromosome 1q25-q31. The associationof jaw ossifying fibroma with primary hyperparathyroidisim(PHPT) is typical of HPT-JT. It may also include cystic andneoplastic renal abnormalities and uterine tumors.CASE DETAILS: Here, we report a case of HPT-JT with an initialpresentation of declination in reproductive fitness. Extensiveliterature search and thorough investigation helped us parturitatethe underlying syndrome, thereby predictively improving theprognosis.CONCLUSION: The features of HPT-JT are clinically difficult toascertain because the parathyroid disease, ossifying fibroma in thejaw and other abnormalities, often occurs asynchronously and maybe diagnosed and treated separately.