Summary

PHPT occurs in MEN 1 and less frequently in patients with MEN 2A. The gene responsible for MEN 1 is located in chromosome llql3. An inherited mutation "inactivates" menin, a nuclear protein, predisposing these patients to tumor growth and hypersecretion. The gene responsible for MEN 2A has been mapped to chromosome 10. The RET protooncogene is activated, causing oncogenic growth or transformation. HPT occurs more frequently in patients with a codon C634R mutation. Hyperplasia of the four glands is the rule. Patients may present with symptoms of hypercalcemia, although a thorough clinical history and laboratory work-up are advised to rule out other endocrinopathies. HPT in MEN 1 is more aggressive, and there is a high rate of persistent or recurrent HPT. Patients with MEN 2 may develop hypoparathyroidism associated with thyroidectomy for MTC. We recommend subtotal parathyroidectomy with thymectomy and cryopreservation for patients with MEN 1. A more conservative approach can be used for patients with MEN 2A because the disease is not as aggressive and PHPT is not always present at the time of diagnosis.

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chapter 55

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