A case of MODY5-like manifestations without mutations or deletions in coding and minimal promoter regions of the <i>HNF1B</i> gene
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- Kuwabara-Ohmura Yayoi
- Department of Diabetes and Endocrinology, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan
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- Iizuka Katsumi
- Department of Diabetes and Endocrinology, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan
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- Liu Yanyan
- Department of Diabetes and Endocrinology, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan
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- Takao Ken
- Department of Diabetes and Endocrinology, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan
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- Nonomura Kenta
- Department of Diabetes and Endocrinology, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan
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- Kato Takehiro
- Department of Diabetes and Endocrinology, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan
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- Mizuno Masami
- Department of Diabetes and Endocrinology, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan
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- Hosomichi Kazuyoshi
- Department of Bioinformatics and Genomics, Graduate School of Advanced Preventive Medical Sciences, Kanazawa University, Kanazawa 920-8640, Japan
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- Tajima Atsushi
- Department of Bioinformatics and Genomics, Graduate School of Advanced Preventive Medical Sciences, Kanazawa University, Kanazawa 920-8640, Japan
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- Miyazaki Tatsuhiko
- Pathology Division, Gifu University Hospital, Gifu 501-1194, Japan
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- Horikawa Yukio
- Department of Diabetes and Endocrinology, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan
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- Yabe Daisuke
- Department of Diabetes and Endocrinology, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan
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Abstract
<p>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 in the HNF1B gene have been reported. Our genetic testing failed to detect any mutation or microdeletion in the coding or minimal promoter regions of the HNF1B gene. Although there remains a possibility that genetic mutations in introns and regulatory regions of the HNF1B gene might cause the MODY5-like manifestations in this patient, these results might suggest involvement of genes other than HNF1B in the pathogenesis of our patient’s disease.</p>
Journal
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- Endocrine Journal
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Endocrine Journal 67 (9), 981-988, 2020
The Japan Endocrine Society