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Article

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

Endocrine journal - 28 Sept 2020

Kuwabara-Ohmura Yayoi, Iizuka Katsumi, Liu Yanyan, Takao Ken, Nonomura Kenta, Kato Takehiro, Mizuno Masami, Hosomichi Kazuyoshi, Tajima Atsushi, Miyazaki Tatsuhiko, Horikawa Yukio, Yabe Daisuke

Abstract excerpt

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...

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Identifiers

PMID: 32461507
DOI: 10.1507/endocrj.EJ20-0038

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