The syndrome of multiple endocrine neoplasia type 1: clinical case
Tevosyan L.H., Dreval’ A.V., Kryukova I.V., Barsukov I.A.

M.F. Vladimirskiy Moscow Regional Research and Clinical Institute, Moscow

MEN syndrome type 1 is a hereditary pathology characterized by the presence of two or more tumors (or hyperplasia) of the endocrine glands most commonly located in the parathyroid glands. This pathology is quite rare and poorly studied, however, given the high prevalence of primary hyperparathyroidism in the population, it requires certain knowledge for the treatment of such patients. Identification of patients at risk has an important prognostic significance, because the disease is often diagnosed years after the occurrence of the first clinical symptoms, which may adversely affect the prognosis for the patient. It is necessary to increase vigilance against this hereditary disease for a prompt screening and treatment, as well as comprehensive dynamic monitoring of patients with the syndrome of multiple endocrine neoplasia type 1. An integrated, multidisciplinary approach to patient management can improve the detection of the disease and increase life expectancy. The article presents the clinical observation of a patient with syndrome of MEN 1 type and heterozygous substitution s.1261T> C: r.S421R MEN1 gene, which hasn’t been described in the literature yet.

Key words: multiple endocrine neoplasia type 1, primary hyperparathyreodism, hypercalcemia, parathyroid hormone, parathyroid glands, neuroendocrine tumors, pituitary adenoma.

For citation: Tevosyan L.H., Dreval’ A.V., Kryukova I.V., Barsukov I.A. The syndrome of multiple endocrine neoplasia type 1: clinical case // RMJ. 2017. № 1. P. 61–63.