Background: Hyperparathyroidism-jaw tumour syndrome (HPT-JT) is a rare genetic syndrome associated with primary hyperparathyroidism (PHPT), fibro-osseous tumours of the maxilla and mandible (30%), and renal (15%) and uterine involvement (50% of females). Given the rarity of HPT-JT there is much controversy on many aspects of this condition which includes its diagnosis, management, follow-up and screening. We present a case of HPT-JT and highlight some of the challenges associated with this syndrome (1, 2).
Case Presentation: A 38-year-old Caucasian man with no prior personal or family history, presented with symptomatic severe hypercalcaemia due to PHPT. His initial biochemistry showed corrected calcium 3.10 mmol/L (2.1 – 2.6), phosphate 0.32 mmol/L (0.75 – 1.5), markedly elevated parathyroid hormone level at 70.4 pmol/L (1.6 – 7.5) and creatinine 86 umol/L (60 – 110). His vitamin D initially was 35 nmol/L but subsequently become replete on supplementation. Localisation studies revealed a large 32 x 30 x 24 mm left inferior parathyroid adenoma and he subsequently had a left inferior parathyroidectomy. His histopathology and immunohistochemistry revealed a PDP9.5 positive and parafibromin deficient atypical parathyroid tumour, which weighed 16 x 7g. He was referred for genetic testing which showed no pathological variant in the CDC73 gene. He has renal stones but no evidence of jaw or renal tumour on screening imaging.
Conclusion: HPT-JT is rare and heterogeneous in nature, and there are many challenges associated with this condition which includes diagnosing HPT-JT with the use of genetic testing and immunohistochemistry, determining the best surgical approach to PHPT which is controversial, and diagnosing parathyroid carcinoma which is commonly associated with HPT-JT. Further research and multidisciplinary care is required for optimal management of patients with HPT-JT.