Searchable abstracts of presentations at key conferences in endocrinology

ea0037ep1128 | Endocrine tumours | ECE2015

A unique case of hyperparathyroidism-jaw tumour syndrome due to a previously unreported pathogenic duplication mutation of CDC73 gene

Bogusz Pawel , McConnell Elizabeth Mae , McConnell Vivienne , Korda Marian

Hyperparathyroidism-jaw tumour syndrome (HPT-JT) is a rare autosomal dominant condition characterized by primary hyperparathyroidism (<90%) as a result of parathyroid adenoma or carcinoma (10–15%), ossifying fibromas of mandible and maxilla (30–40%), renal lesions (20%) most commonly cysts and benign and malignant uterine tumours and caused by germline CDC73 pathogenic gene mutations. Currently only 200 cases reported in medical literature. His management has pro...