A Case Report of MODY3 Combined with Intestinal Neuroendocrine Tumor

Author: Li TIELI ¹ ; Ding HAIXUAN ; Zhao XINLAN ; Luo JUAN ; Chen KAI ; Tang ZHUO ; Huang LINGYUN ; Li LANGBO ; Yang LI
Author Information

1. Department of Endocrinology,The First Affiliated Hospital of Hunan Normal University(Hunan Provincial People's Hospital),Changsha 410005,China
Keywords: maturity-onset diabetes of the young 3; intestinal neuroendocrine tumor; hepatocyte nuclear factor 1α; mutation
From: Chinese Medical Sciences Journal 2022;37(2):167-170
CountryChina
Language:Chinese
Abstract: Maturity-onset diabetes of the young 3 (MODY3) is an autosomal dominant monogenic diabetes mellitus characterized by defective β-cell function and non-insulin-dependent early-onset diabetes mellitus. The facts that patients with MODY3 are often misdiagnosed as type 1 and type 2 diabetes mellitus and genetic diagnosis is expensive, make its diagnosis very challenging. In this study, we reported a case of MODY3, which was verified to be caused by a mutation in hepatocyte nuclear factor 1α gene (c.598C>T, p.Arg200Trp). In addition, the patient had a neuroendocrine tumor simultaneously, and a KMT2D gene mutation (c.5587C>G, p.Pro1863Ala) might be associated with this leson.