{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T01:40:09Z","timestamp":1780105209796,"version":"3.54.0"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,10,15]],"date-time":"2021-10-15T00:00:00Z","timestamp":1634256000000},"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>Agenesis of the dorsal pancreas (ADP) is a rare disease, the pathogenic mechanism of which is partially related to variants of 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 report a case of ADP, which presented with acute ketoacidosis, hyperuricemia, and liver dysfunction. In this case, the <jats:italic>HNF1B<\/jats:italic> score was estimated as 16 and a heterozygous variant of <jats:italic>HNF1B<\/jats:italic> in exon 2 (c.513G&amp;gt;A-p.W171X) was identified through gene sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A good understanding of the clinical comorbidities of ADP is essential for avoiding missed diagnosis to a great extent. Moreover, estimation of <jats:italic>HNF1B<\/jats:italic> score is recommended before genetic testing.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2021.640006","type":"journal-article","created":{"date-parts":[[2021,10,15]],"date-time":"2021-10-15T05:53:24Z","timestamp":1634277204000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report"],"prefix":"10.3389","volume":"12","author":[{"given":"Mei","family":"Guo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qinqin","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefeng","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qin","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiying","family":"Shao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,10,15]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1007\/s10620-008-0370-3","article-title":"Agenesis of the Dorsal Pancreas and Associated Diseases","volume":"54","author":"Schnedl","year":"2009","journal-title":"Dig Dis Sci"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.17235\/reed.2016.4474\/2016","article-title":"Agenesis of the Dorsal Pancreas: Systematic Review of a Clinical Challenge","volume":"108","author":"AC","year":"2016","journal-title":"Rev Esp Enferm Dig"},{"key":"B3","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1186\/s12902-019-0449-1","article-title":"Agenesis of the Dorsal Pancreas Presenting With Diabetic Ketoacidosis - A Case Report and Literature Review","volume":"19","author":"Yang","year":"2019","journal-title":"BMC Endocrine Disord"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.14744\/nci.2020.24444","article-title":"Complete Agenesis of Dorsal Pancreas With Pancreatic Cyst: A Case Report","volume":"8","author":"Ustabasioglu","year":"2021","journal-title":"North Clin Istanb"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1097\/MPA.0000000000001648","article-title":"Complete Agenesis of the Dorsal Pancreas as a Rare Manifestation of a Chromosomal Anomaly: A Case Report","volume":"49","author":"Bogovic","year":"2020","journal-title":"Pancreas"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijscr.2020.10.005","article-title":"Polysplenia With Agenesis of the Dorsal Pancreas and Preduodenal Portal Vein, About a Case","volume":"76","author":"Elhattabi","year":"2020","journal-title":"Int J Surg Case Rep"},{"key":"B7","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1186\/s12876-020-01245-8","article-title":"Two Cases of Agenesis of the Dorsal Pancreas and a Review of the Literature","volume":"20","author":"Mei","year":"2020","journal-title":"BMC Gastroenterol"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijscr.2020.10.029","article-title":"Giuliani A. 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