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This case report is interesting, well proven, and instructive. It underscores the growing influence and importance of molecular genetics in clinical medicine, which will almost certainly play a key role in the appropriate management of future patients.
The fact that sporadic primary hyperparathyroidism would occur in a patient who is part of a kindred with MEN 1 is not surprising. Sporadic hyperparathyroidism could still develop in patients who do not inherit the MEN 1 gene of their families. This patient convincingly does not have MEN 1, based on the single overriding fact that the haplotype of her 11q13 region is not shared by affected family members. In retrospect, operative, pathologic, and follow-up data lend support to the diagnosis of non—MEN 1-related hyperparathyroidism but would be inadequate without the genetic data.
Consistent with other reports, the authors note that in patients with MEN 1 hyperparathyroidism, the parathyroid disease is invariably multiglandular,
Grant CS. Invited Commentary. Arch Surg. 1996;131(11):1232. doi:10.1001/archsurg.1996.01430230114021