Relationship of multiple endocrine adenomas to the syndrome of ulcerogenic islet cell adenomas (Zollinger-Ellison): Occurrence of both syndromes in one family

Abstract

A family of seven siblings, of which three sisters suffer from multiple endocrine adenomas, is reported. One had functioning adenomas of the parathyroids and of the β-cells of the pancreas. The second sister suffered from a chromophobe pituitary adenoma and later had hyperinsulinism, while the third had Cushing's syndrome and hyperparathyroidism. Hyperparathyroidism alone was found in one brother and was probably present in three descendents of these siblings. It was found to be a mild form of hyperparathyroidism, with few clinical symptoms, usually producing no lesions in the bones and the kidneys even after many years. Two brothers among these seven siblings died of atypically located, recurring and perforating peptic ulcers. In one, ulcerogenic islet cell adenoma must be assumed, and it was present, possibly, in the other. Four members of the paternal family died of peptic ulcers, and many others were found to have ulcer complaints. Among the reported cases of multiple endocrine adenomas, concomitant ulcerogenic islet cell adenoma was often noted, and vice versa. This study confirms Wermer's concept of dominant inheritance in multiple endocrine adenomas. It must be assumed that the disease entities of multiple endocrine adenomas, ulcerogenic islet cell adenoma, and a particular, familial form of hyperparathyroidism are caused by a dominant, pleiotropic gene which has normal penetrance but variable expressivity.