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Should routine analysis of the MEN1 gene be performed (...)

World J Surg. 2010 Jun ;34(6):1294-8
Should routine analysis of the MEN1 gene be performed in all patients with primary hyperparathyroidism under 40 years of age ?
Skandarajah A, Barlier A, Morlet-Barlat N, Sebag F, Enjalbert A, Conte-Devolx B, Henry JF.

Familial hyperparathyroidism, especially Multiple Endocrine Neoplasia Type 1, is more likely to present with primary hyperparathyroidism (1 degrees HPT) at a young age, mandating bilateral exploration of the parathyroid glands. However, the majority of young patients will not be gene carriers or have a family history. Recent evidence suggests that young adults under 40, in whom there is no suspicion of family history, can be managed with the same pre- and perioperative strategy as used for sporadic primary HPT of any age. Our aim was to evaluate the prevalence of mutations in the MEN1 gene in young adults under 40 who present with apparent sporadic 1 degrees HPT.

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