Primary Hyperparathyroidism in Young People. When Should We Perform Genetic Testing for MEN1?

Primary Hyperparathyroidism in Young People. When Should We Perform Genetic Testing for Multiple Endocrine Neoplasia 1 (MEN-1)?

T. Lassen, L. Friis-Hansen, et al.
The Journal of Clinical Endocrinology & Metabolism 2014 99:11, 3983-3987

Results and Discussion:

Whether to perform screening of patients with pHPT under the age of 30, 35, or 40 years is controversial. According to international guidelines from 2001, genetic testing is indicated only in patients with pHPT below the age of 30 years. However, in updated guidelines from 2012, it is suggested to perform genetic testing in patients with pHPT below the age of 30 years, but also at any age in patients presenting with multigland parathyroid disease.

Conclusions:

The reviewed literature and the presented case illustrate the importance of this change in international guidelines, but they also raise concern for a potential underdiagnosing of patients before year 2012.