Multiple endocrine neoplasia.

Abstract

The MEN syndromes continue to be the focus of considerable interest and research. Since successful treatment requires early diagnosis, proper screening and follow-up of patients at risk is important. In the individual at risk for developing MEN IIa, annual screening should include measurement of the basal and stimulated plasma CT levels, and determination of plasma levels of calcium, PTH, and CEA. Twenty-four hour urine excretion rates of norepinephrine, epinephrine, metanephrine, dopamine, and VMA should also be obtained. It is our recommendation that this screening be continued through the third decade of life. Patients having thyroidectomy for MTC need to be tested annually for recurrent MTC and the development of adrenal medullary disease. All patients at risk for developing MEN IIb should be evaluated in a similar fashion. Recently, several groups using DNA linkage analysis have mapped the gene for MEN IIa to chromosome 10, although the exact location of the gene is yet to be determined. Preliminary linkage studies have mapped the gene for MEN I to chromosome 11. The identification of the genes for MEN I and MEN II will greatly simplify the diagnosis of the disease and perhaps also the therapy of affected patients.