Multiple endocrine neoplasia Type I. Diagnosis and therapy in a case with classical family history

BACKGROUND: A classical family history, representative of the multiple endocrine neoplasia type I (MEN I) syndrome, is reported to illustrate the clinical manifestations, diagnostic procedures and therapeutic modalities of the various endocrine disorders of this syndrome. DIAGNOSIS: Today genetic analysis clearly identifies gene carriers. In these patients screening of all involved endocrine organs (parathyroid, pituitary, pancreas) at regular time intervals is necessary because also at higher ages additional endocrine manifestations may develop. Due to consequent screening the age at time of diagnosis was reduced by 10 to 20 years. As a consequence the rate of malignancy of pancreatic endocrine tumors which is the limiting factor with regard to long-term prognosis was reduced to about one third. At present it is not known whether this procedure can also increase the survival rate of MEN I patients as could be demonstrated in the MEN II syndrome.