Merino VM, Pavón PI, Guijarro AMG, Navea AC, Torán RC

Language: Spanish
References: 12
Page: 63-68
PDF size: 59.49 Kb.

ABSTRACT

Introduction: there are four types of multiple endocrine neoplasias which are characterized by occurrence of tumors in two or more endocrine glands. The prevalence rate of multiple endocrine neoplasia type 1 is 2 per 100 000 patients approximately and it is a rare disease.
Objective: to rule out the existence of any other disease in order to properly diagnose a suspected multiple endocrine neoplasia type 1 with negative mutation.
Clinical case presentation: a 36 years-old woman diagnosed with macroprolactinoma and primary normocalcemic hyperparathyroidism (clinical multiple endocrine neoplasia type 1) and clinical findings supporting the performance of a genetic study. The study initially yielded negative results for the above-mentioned disease. However, in those patients with clinical multiple endocrine neoplasia type 1- or high suspicious of multiple endocrine neoplasia type 1 with no identified mutation- it must be considered that there is a phenocopy and the genetic study must be extended to include CDC 73, CDKN1B, CaSR and AIP. These genes were also analyzed with negative results. Another disease to be considered would be isolated family hyperparathyroidism.
Conclusions: making the diagnosis of a multiple endocrine neoplasia type 1 is not sometimes as simple as identifying a positive mutation. It is important to rule out possible phenocopies to be able to adequately diagnose a patient, since this will determine the search for other probable tumors which may ultimately influence this prognosis.

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