Primary hyperparathyroidism (PH) is a common endocrine abnormality and may occur as part of a genetic syndrome. Inactivating mutations of the tumour suppressor gene CDC73 have been identifed as accounting for a large percentage of hyperparathyroidsm-jaw tumour syndrome (HPT-JT) cases and to a lesser degree account for familial isolated hyperparathyroidism (FIHP) cases. Reports of CDC73 whole gene deletions are exceedingly rare.
We report the case of a 39 year old woman with PH secondary to a parathyroid adenoma associated with a large chromosomal deletion (2.5Mb) encompassing the entire CDC73 gene detected years after parathyroidectomy.
This case highlights the necessity to screen young patients with hyperparathyroidism for an underlying genetic aetiology. It also demonstrates that molecular testing for this disorder should contain techniques that can detect large deletions.