Hyper Parathyroidisim Jaw Tumor Syndrome: A Rare Condition of Incongruous Features

• Published in: Ethiopian journal of health sciences Vol. 27; no. 3; pp. 309 - 313
• Main Authors: Redwin Dhas, Manchil P, Karthiga, Kannan S, Tatu, Joy E, Eugenia, Sherubin J
• Format: Journal Article
• Language: English
• Published: Ethiopia Research and Publications Office of Jimma University 01-05-2017
• Subjects: Adenoma - complications; Adenoma - diagnosis; Adenoma - pathology; Adult; Case Report; Female; Fibroma - complications; Fibroma - diagnosis; Fibroma - pathology; Genetic Fitness; Humans; Hyperparathyroidism - complications; Hyperparathyroidism - diagnosis; Hyperparathyroidism - pathology; Jaw - pathology; Jaw Neoplasms - complications; Jaw Neoplasms - diagnosis; Jaw Neoplasms - pathology; Parathyroid Diseases; Prognosis; Rare Diseases; Reproductive Health; Tumor Suppressor Proteins - genetics; Young Adult; HPT-JT; Ossifying fibroma; Hyperparathyroidism; Syndrome
• ISSN: 1029-1857; 2413-7170; 1029-1857
• DOI: 10.4314/ejhs.v27i3.14

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.
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.
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.