{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T15:45:04Z","timestamp":1778600704433,"version":"3.51.4"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,8,5]],"date-time":"2022-08-05T00:00:00Z","timestamp":1659657600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Maturity-onset diabetes of the young 5 (MODY5), a rare diabetes syndrome of young adults, is associated with variants in hepatocyte nuclear factor 1B (<jats:italic>HNF1B<\/jats:italic>) gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>We reported a case of MODY5, which presented with diabetic ketosis, multiple renal cysts, and hypokalemia. In this case, the <jats:italic>HNF1B<\/jats:italic> score was estimated as 13 and a heterozygous variant of <jats:italic>HNF1B<\/jats:italic> in exon 4 (c.826C&amp;gt;T, p.Arg276*) was identified through Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Multiple renal cysts and youth-onset diabetes are common manifestations in patients with <jats:italic>HNF1B<\/jats:italic> mutations, and insufficient insulin secretion may be a potential cause of diabetic ketosis in MODY5.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2022.917819","type":"journal-article","created":{"date-parts":[[2022,8,5]],"date-time":"2022-08-05T05:48:17Z","timestamp":1659678497000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":8,"title":["Case Report: A case of HNF1B mutation patient with first presentation of diabetic 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