Endocrine Abstracts

Hyperparathyroid jaw tumour syndrome is a familial form of primary hyperparathyroidism. Individuals are predisposed to develop parathyroid carcinomas (15%), ossifying fibromas of mandible and maxilla (30%), renal abnormalities including cystic lesions and hamartomas, and uterine tumours (1,2). The pathogenic mutation is in CDC73 gene (previously known as HRPT2 and C1orf28) inherited in an autosomal dominant manner.

Our patient was the first person in the UK to have the diagnosis confirmed on genetic testing. Two sisters had primary hyperparathyroidism. Father had hyperparathyroidism and an ossifying fibroma. During subsequent follow up, she was found to have a small neuroendocrine tumour of her pancreas and is under regular review. The proposed screening protocol is discussed.

References: 1. Szabo J et al. Hereditary hyperparathyroid jaw tumour syndrome. Am J Hum Genet 1995 56(56) 944–950.

2. Thakker R. Oxford Molecular Genetics Laboratory, 16/09/2011.