Endocrine Abstracts

Introduction: Multiple endocrine neoplasia type 1 is a rare inherited tumor syndrome defined most frequently by the association of primary hyperparathyroidism, gastro-entero-pancreatic tract endocrine neoplasia and anterior pituitary gland adenoma and less commonly by neuroendocrine tumor of the adrenal cortex, thymus and bronchis. Association to non-endocrine tumors affecting the skin, glial cell, smooth muscle or breast cancer has been described. As far as we know, only one ...

The characteristics of adrenal involvement in Multiple Endocrine Neoplasia type 1 (MEN1) have been defined from studies involving a limited number of patients. We have assessed retrospectively the prevalence, characteristics and evolution of adrenal involvement from the French group for the study of endocrine tumours (GTE) registry, involving 688 patients with MEN1. In our series, adrenal tumours identified at abdominal imaging occurred in 130 patients (18.9%). The mean age of...

Context: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene. MEN1 is characterized by a broad spectrum of clinical manifestations, of which the most frequent are primary hyperparathyroidism, pituitary adenomas, and neuroendocrine tumors. MEN1 presents a broad spectrum of variants, including large deletions, and truncating, missense, or splicing point mutations. The genotype-phenotype relationship r...