Novel Germline c.105_107dupGCT Mutation in a Family with Newly Diagnosed Multiple Endocrine Neoplasia Type 1.

In multiple endocrine neoplasia type 1 (MEN1), the causative gene mutations lead to the reduced expression of menin, which is a tumor suppressor protein. In this study, we present a case of a 16-year-old woman with severe primary hyperparathyroidism and a non-functioning pituitary microadenoma. Genetic testing demonstrated a novel germline heterozygote variant c.