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 ...

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...

Case history: A 41-year-old lady had Total Thyroidectomy in 2007 for a large multi-nodular goitre. Post-operatively, she was hypocalcemic with mild inappropriately low Pth levels. She was treated with high dose α-calcidol and calcium supplements but the response was suboptimal. Following introduction of teriparatide, serum calcium has been improving to between 1.90 and 2.06 mmol/l. She continues on high dose α-calcidol.Investigations: Corrected...