Preliminary report of a kindred affected from MEN IIa

Abstract

Preliminary data of a kindred with multiple endocrine neoplasia type Ila (MEN IIa) are presented. The study concerns 20 subjects belonging to 4 generations. The first is a man, previously adrenalectomized for pheochromocytoma, suffering from thyroid node with high serum calcitonin (CT) and normal tests for parathyroid function, who underwent total thyroidectomy, removal of a grossly enlarged parathyroid and subsequent autotransplantation, because the other glands seemed to be macroscopically uninvolved. In 4 further patients total thyroidectomy and removal of the parathyroid glands with autotransplantation were performed. In all patients, despite biochemical tests had disclosed parathyroid hyperfunction in only one, one or more enlarged parathyroid glands were found, subsequently diagnosed as adenomatous or with focal areas of “chief-cell” hyperplasia. In 3 out of 4 patients, a single test among those performed to detect the presence of a pheochromocytoma was positive. However, because of the lack of a clear correlation among data from biochemistry, stimulation tests and morphological investigations, adrenalectomy has not been performed. Nevertheless these patients will be closely followed up, in order to promptly state when andrenalectomy has to be performed.