Previously unreported deletion of CDC73 involving exons 1-13 was detected in a patient with recurrent parathyroid carcinoma.

Parathyroid carcinoma (PC) is a rare malignancy, presenting sporadically or as part of a genetic syndrome. Diagnosis of PC includes the histopathological diagnosis based on capsular, perineural, or vascular invasion or metastasis. High suspicion for malignancy includes hypercalcaemia greater than 14 mg/dL, extremely high serum parathyroid hormone (PTH) levels, as well as large masses.

Primary hyperparathyroidism: Skeletal and non-skeletal effects, diagnosis and management.

Primary hyperparathyroidism (PHPT) is the third most common endocrinopathy seen today, and is most frequently found in the 6th to 7th decade of life. PHPT can present with various degrees of symptoms, and can affect many organ systems, including the skeletal, renal, central nervous system and cardiovascular system. Despite this, the most common presentation of hyperparathyroidism is "asymptomatic" with the diagnosis being made incidentally with the initial finding of hypercalcemia on routine laboratory studies, leading to further investigation.