Background: Multiple endocrine neoplasia type I (MEN I) is a hereditary disease characterised by involvement of several endocrine organs (parathyroid, anterior pituitary, pancreatic islet cells and other). In order to build up a German MEN I-register a questionnaire was developed.
Patients: In four centres we diagnosed 29 cases of MEN I (average age 53 years, range 27 to 72 years, 21 women, eight men).
Results: In 25 patients (86%) we found a primary hyperparathyroidism, in 15 patients (52%) an adenoma of the anterior pituitary (seven patients with growth hormone-secreting adenomas, five patients with prolactinomas, two patients with hormone-inactive and one patient with an ACTH-secreting adenoma), in ten patients (34%) a neoplasm of the pancreatic islet cells (six patients with gastrinomas, four patients with insulinomas and two patients with multihormone tumors) and in ten patients (34%) other endocrine tumors (five carcinoid tumors, three adenomas of the adrenal cortex, one papillary thyroid carcinoma and one thymic tumor). In nine cases nephrolithiasis was the leading symptom of primary hyperparathyroidism. All female patients with prolactinomas developed secondary amenorrhea. In three cases gastrinomas caused duodenal ulcers and three insulinomas were detected by fasting hypoglycemia. A primary hyperparathyroidism was most frequently combined with an adenoma of the anterior pituitary (21%). Detailed screening of 13 families early revealed MEN I in eleven cases.
Conclusions: The manifestation of an endocrine disease in MEN I should initiate further diagnostics. Having established the diagnosis of MEN I, a meticulous work-up of all family members is warranted. The set-up of a register by the successfully tested questionnaire will support these activities and facilitate further research of new genetic markers, follow-up and treatment.