{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T22:59:47Z","timestamp":1781564387516,"version":"3.54.5"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T00:00:00Z","timestamp":1699920000000},"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 type 5 (MODY5) is an uncommon, underrecognized condition that can be encountered in several clinical contexts. It is challenging to diagnose because it is considered rare and therefore overlooked in the differential diagnosis. Moreover, no typical clinical features or routine laboratory tests can immediately inform the diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>We report a 28-year-old man who was once misdiagnosed with type 1 diabetes due to decreased islet function and recurrent diabetic ketosis or ketoacidosis. However, he had intermittent nausea, vomiting, abdominal distension, and abdominal pain 6 months prior. Further examinations revealed agenesis of the dorsal pancreas, complex renal cyst, kidney stone, prostate cyst, hypomagnesaemia, and delayed gastric emptying. Accordingly, whole-exon gene detection was performed, and a heterozygous deletion mutation was identified at [GRCh37 (hg19)] chr17:34842526-36347106 (1.5 Mb, including <jats:italic>HNF1B<\/jats:italic> gene). The patient was eventually diagnosed with 17q12 deletion syndrome with gastroparesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden the genetic mutation spectrum of this condition. With the help of gene detection technology, these findings can assist endocrinologists in making the correct diagnosis of MODY5 or 17q12 deletion syndrome. Additionally, they can formulate an appropriate therapy and conduct genetic screening counseling for their family members to guide and optimize fertility.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2023.1205431","type":"journal-article","created":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T13:09:52Z","timestamp":1699967392000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Case Report: Diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome with diabetic gastroparesis"],"prefix":"10.3389","volume":"14","author":[{"given":"Sixu","family":"Xin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaomei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,11,14]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.2337\/dc11-0035","article-title":"MODY: history, genetics, pathophysiology, and clinical decision making","volume":"34","author":"Fajans","year":"2011","journal-title":"Diabetes Care"},{"key":"B2","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1186\/s40842-020-00103-6","article-title":"Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review","volume":"6","author":"Mateus","year":"2020","journal-title":"Clin Diabetes Endocrinol"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2014-306810","article-title":"Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome","volume":"100","author":"Laffargue","year":"2015","journal-title":"Arch Dis Childhood"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1007\/s13730-021-00604-y","article-title":"A case of 17q12 deletion syndrome that presented antenatally with markedly enlarged kidneys and clinically mimicked autosomal recessive polycystic kidney disease","volume":"10","author":"Nakamura","year":"2021","journal-title":"CEN Case Rep"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-021-05568-3","article-title":"The management of type 1 diabetes in adults. 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