Chinese Medical Sciences Journal ›› 2022, Vol. 37 ›› Issue (2): 167-170.doi: 10.24920/003997

• Case Reports • Previous Articles    

A Case Report of MODY3 Combined with Intestinal Neuroendocrine Tumor

Tieli Li, Haixuan Ding, Xinlan Zhao, Juan Luo, Kai Chen, Zhuo Tang, Lingyun Huang, Langbo Li, Li Yang*()   

  1. Department of Endocrinology, The First Affiliated Hospital of Hunan Normal University (Hunan Provincial People’s Hospital), Changsha 410005, China
  • Received:2021-09-09 Accepted:2022-01-25 Published:2022-06-30 Online:2022-07-07
  • Contact: Li Yang

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.

Key words: maturity-onset diabetes of the young 3, intestinal neuroendocrine tumor, hepatocyte nuclear factor 1α, mutation

Copyright © 2021 Chinese Academy of Medical Sciences.  京公安备110402430088  京ICP备06002729号-1  Powered by Magtech.

Supervised by National Health & Family Plan Commission of PRC

9 Dongdan Santiao, Dongcheng district, Beijing, 100730 China

Tel: 86-10-65105897  Fax:86-10-65133074 


Copyright © 2018 Chinese Academy of Medical Sciences

All right reserved.

京公安备110402430088  京ICP备06002729号-1