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.

Long-Term Natural Course of Pituitary Tumors in Patients With MEN1

Long-Term Natural Course of Pituitary Tumors in Patients With MEN1: Results From the DutchMEN1 Study Group (DMSG)

Joanne M. de Laat, Olaf M. Dekkers, et al.
The Journal of Clinical Endocrinology & Metabolism 2015 100:9, 3288-3296;

Results:

...Ninety-one percent of the nonfunctioning PIT detected during screening (n = 35), did not require intervention during followup (median, 6.0 y). Three microadenomas showed limited growth but did not progress toward macroadenomas. Both screening-detected and prevalent prolactinomas ...responded well to treatment with dopamine agonists.

Conclusion:

Systematic presymptomatic screening for PIT in patients with MEN1 predominantly results in detection of nonfunctioning microadenomas. Prolactinoma in patients with MEN1 responded well to medical treatment. Microadenomas grew only occasionally and after many years without clinical consequences. Frequent magnetic resonance imaging followup of nonfunctioning microadenomas in the context of MEN1 and sporadically occurring PITs therefore seems debatable.