Endocrine Abstracts

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...

APS I is a rare condition with autosomal recessive inheritance. We report a series of three sisters (Table 1), affected by APS I, who all had a mutation of the autoimmune regulator (AIRE) gene. An index case (A) died at 26 years old due to vascular complications.The management of primary hypoparathyroidism in case A, who also had type I diabetes was also complicated by nephrocalcinosis, renal calculi, chronic renal failure and vascular calcification. In ...