A case of MODY5-like manifestations without mutations or deletions in coding and minimal promoter regions of the HNF1B gene.

A case of MODY5-like manifestations without mutations or deletions in coding and minimal promoter regions of the HNF1B gene. Endocr J. 2020 May 27;: Authors: Kuwabara-Ohmura Y, Iizuka K, Liu Y, Takao K, Nonomura K, Kato T, Mizuno M, Hosomichi K, Tajima A, Miyazaki T, Horikawa Y, Yabe D Abstract Pancreatic tail hypoplasia is a common manifestation of maturity onset diabetes of the young (MODY) 5 that can cause reno-genito-urinary malformations such as renal cysts and bicornuate uterus. A 69-year-old female was admitted to our hospital for consultation on her relatively high HbA1c value. At age 20, she was diagnosed with uterus bicornis. At age 68, she was diagnosed with pancreas tail hypoplasia, renal cysts and non-functioning pancreatic neuroendocrine tumor (NET) in addition to right hydronephrosis due to multiple ureteral bladder carcinomas. She received total right nephrectomy, ureterectomy and partial cystectomy for multiple ureteral bladder carcinomas [non-invasive papillary urothelial carcinoma, low grade (G1), pTa, LV10, u-rtx, RM0, and pN0 (0/8)]. She also received distal pancreatomy for pancreatic NET [NET G1]. She then was referred to our department at age 69 due to increase in her HbA1c value from 6.2 to 7.2%; 75 g oral glucose tolerance test revealed impaired glucose tolerance. Her clinical characteristics (uterus bicornis, pancreas hypoplasia, and renal cysts) closely resembled the phenotype of MODY5, in which mutations i...
Source: Endocrine Journal - Category: Endocrinology Tags: Endocr J Source Type: research