Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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A 27-year-old man with relevant history of nephrolithiasis and minimally invasive parathyroidectomy several years prior presents with knee and hip pain, polyuria, polydipsia, and laboratory findings of recurrent primary hyperparathyroidism. Physical examination is unremarkable. Family history is positive for adrenal tumor, possibly a pheochromocytoma, in his father. Subsequent genetic testing, performed due to concern for multiple endocrine neoplasia–related disease, shows deletion of exons 4–6 in the CDC 73 gene.
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