AUTHOR=Guo Mei , Xu Qinqin , Yu Xuefeng , Yang Qin , Shao Shiying 

TITLE=Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report

JOURNAL=Frontiers in Endocrinology

VOLUME=12

YEAR=2021

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2021.640006

DOI=10.3389/fendo.2021.640006

ISSN=1664-2392

ABSTRACT=<sec><title>Background</title><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 (<italic>HNF1B</italic>) gene.</p></sec><sec><title>Case Presentation</title><p>We report a case of ADP, which presented with acute ketoacidosis, hyperuricemia, and liver dysfunction. In this case, the <italic>HNF1B</italic> score was estimated as 16 and a heterozygous variant of <italic>HNF1B</italic> in exon 2 (c.513G&gt;A-p.W171X) was identified through gene sequencing.</p></sec><sec><title>Conclusions</title><p>A good understanding of the clinical comorbidities of ADP is essential for avoiding missed diagnosis to a great extent. Moreover, estimation of <italic>HNF1B</italic> score is recommended before genetic testing.</p></sec>