{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T04:26:29Z","timestamp":1783398389604,"version":"3.54.6"},"reference-count":14,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2022,6,15]],"date-time":"2022-06-15T00:00:00Z","timestamp":1655251200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Hepatocyte nuclear factor-1B (HNF1B) maturity-onset diabetes of the young (MODY), also referred to as \u201crenal cysts and diabetes syndrome\u201d or MODY-5, is a rare form of monogenic diabetes that is caused by a deletion or a point mutation in the HNF1B gene, a developmental gene that plays a key role in regulating urogenital and pancreatic development. HNF1B-MODY has been characterized by its association with renal, hepatic and other extrapancreatic features.<\/jats:p>\n               <jats:p>We present the case of a 39-year-old female patient who was first diagnosed with type 1 diabetes, but then, owing to the absence of anti-islet autoantibodies and to the disease\u2019s progression, was labeled later on as having atypical type 2 diabetes. She was finally recognized as having HNF1B-MODY, a diagnosis that had been suggested by the lack of metabolic syndrome and by the presence of unexplained chronically disturbed liver function tests and hypomagnesemia. There was a 10-year delay between the onset of diabetes and the molecular diagnosis. An atypical form of diabetes, especially in patients with multisystem involvement, should raise suspicion for an alternative etiology. A timely diagnosis of HNF1B-MODY is of utmost importance since it can greatly impact diabetes management and disease progression as well as family history.<\/jats:p>","DOI":"10.1210\/jendso\/bvac087","type":"journal-article","created":{"date-parts":[[2022,6,15]],"date-time":"2022-06-15T19:30:24Z","timestamp":1655321424000},"source":"Crossref","is-referenced-by-count":10,"title":["HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiological Diagnosis of Diabetes"],"prefix":"10.1210","volume":"6","author":[{"given":"Youmna","family":"Francis","sequence":"first","affiliation":[{"name":"Department of Diabetology, H\u00f4pital Cochin, APHP, and Universit\u00e9 Paris Cit\u00e9 , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clarisse","family":"Tiercelin","sequence":"additional","affiliation":[{"name":"Department of Diabetology, H\u00f4pital Cochin, APHP, and Universit\u00e9 Paris Cit\u00e9 , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laure","family":"Alexandre-Heyman","sequence":"additional","affiliation":[{"name":"Department of Diabetology, H\u00f4pital Cochin, APHP, and Universit\u00e9 Paris Cit\u00e9 , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etienne","family":"Larger","sequence":"additional","affiliation":[{"name":"Department of Diabetology, H\u00f4pital Cochin, APHP, and Universit\u00e9 Paris Cit\u00e9 , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3287-6309","authenticated-orcid":false,"given":"Dani\u00e8le","family":"Dubois-Laforgue","sequence":"additional","affiliation":[{"name":"Department of Diabetology, H\u00f4pital Cochin, APHP, and Universit\u00e9 Paris Cit\u00e9 , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2022,6,15]]},"reference":[{"issue":"12","key":"2022061909002408200_CIT0001","doi-asserted-by":"crossref","first-page":"2504","DOI":"10.1007\/s00125-010-1799-4","article-title":"Maturity-onset diabetes of the young (MODY): how many cases are we missing?","volume":"53","author":"Shields","year":"2010","journal-title":"Diabetologia."},{"issue":"11","key":"2022061909002408200_CIT0002","doi-asserted-by":"crossref","first-page":"2589","DOI":"10.2337\/dci21-0043","article-title":"The management of type 1 diabetes in adults. a consensus report by the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD)","volume":"44","author":"Holt","year":"2021","journal-title":"Diabetes Care."},{"key":"2022061909002408200_CIT0003","doi-asserted-by":"crossref","first-page":"S17","DOI":"10.2337\/dc22-S002","article-title":"Classification and diagnosis of diabetes: standards of medical care in diabetes\u20142022","volume":"45","author":"American Diabetes Association Professional Practice Committee.","year":"2022","journal-title":"Diabetes Care."},{"key":"2022061909002408200_CIT0004","first-page":"42","article-title":"A review of gestational diabetes mellitus and ademolus classification of hypoglycaemia","volume":"11","author":"Ademolu","year":"2021","journal-title":"Highlights Med Med Sci."},{"issue":"7","key":"2022061909002408200_CIT0005","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1038\/ki.2011.225","article-title":"Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood","volume":"80","author":"Faguer","year":"2011","journal-title":"Kidney Int."},{"issue":"11","key":"2022061909002408200_CIT0006","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.2337\/dc16-2462","article-title":"Monogenic Diabetes Study Group of the Soci\u00e9t\u00e9 Francophone du Diab\u00e8te. Diabetes, associated clinical spectrum, long-term prognosis, and genotype\/phenotype correlations in 201 adult patients with hepatocyte nuclear factor 1B (HNF1B) molecular defects","volume":"40","author":"Dubois-Laforgue","year":"2017","journal-title":"Diabetes Care."},{"issue":"1","key":"2022061909002408200_CIT0007","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1210\/jc.2009-1365","article-title":"Clinical applications of diabetes antibody testing","volume":"95","author":"Bingley","year":"2010","journal-title":"J Clin Endocrinol Metab."},{"issue":"4","key":"2022061909002408200_CIT0008","doi-asserted-by":"crossref","first-page":"e020904","DOI":"10.1136\/bmjopen-2017-020904","article-title":"Relationship between islet autoantibody status and the clinical characteristics of children and adults with incident type 1 diabetes in a UK cohort","volume":"8","author":"Bravis","year":"2018","journal-title":"BMJ Open"},{"issue":"4","key":"2022061909002408200_CIT0009","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.2337\/db15-1105","article-title":"HLA-DRB1*15:01-DQA1*01:02-DQB1*06:02 haplotype protects autoantibody-positive relatives from type 1 diabetes throughout the stages of disease progression","volume":"65","author":"Pugliese","year":"2016","journal-title":"Diabetes."},{"issue":"8","key":"2022061909002408200_CIT0010","doi-asserted-by":"crossref","first-page":"1667","DOI":"10.1007\/s13300-020-00864-4","article-title":"Treatment options for MODY patients: a systematic review of literature","volume":"11","author":"Delvecchio","year":"2020","journal-title":"Diabetes Ther."},{"issue":"7","key":"2022061909002408200_CIT0011","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.2337\/dc13-3007","article-title":"Glucose-lowering effects and low risk of hypoglycemia in patients with maturity-onset diabetes of the young when treated with a GLP-1 receptor agonist: a double-blind, randomized, crossover trial","volume":"37","author":"\u00d8stoft","year":"2014","journal-title":"Diabetes Care."},{"issue":"4","key":"2022061909002408200_CIT0012","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1007\/s001250050931","article-title":"Chronic diabetic complications in patients with MODY3 diabetes","volume":"41","author":"Isomaa","year":"1998","journal-title":"Diabetologia."},{"issue":"1","key":"2022061909002408200_CIT0013","doi-asserted-by":"crossref","first-page":"3","DOI":"10.2337\/db15-1028","article-title":"Hypomagnesemia in type 2 diabetes: a vicious circle?","volume":"65","author":"Gommers","year":"2016","journal-title":"Diabetes."},{"key":"2022061909002408200_CIT0014","doi-asserted-by":"crossref","DOI":"10.2337\/db21-0520","article-title":"Gene panel sequencing of patients with monogenic diabetes brings to light genes typically associated with syndromic presentations","author":"Saint-Martin","year":"2022","journal-title":"Diabetes"}],"container-title":["Journal of the Endocrine Society"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jes\/advance-article-pdf\/doi\/10.1210\/jendso\/bvac087\/44083022\/bvac087.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jes\/article-pdf\/6\/8\/bvac087\/44136609\/bvac087.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jes\/article-pdf\/6\/8\/bvac087\/44136609\/bvac087.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,19]],"date-time":"2022-06-19T09:00:48Z","timestamp":1655629248000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jes\/article\/doi\/10.1210\/jendso\/bvac087\/6608957"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,15]]},"references-count":14,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,8,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jendso\/bvac087","relation":{},"ISSN":["2472-1972"],"issn-type":[{"value":"2472-1972","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2022,8,1]]},"published":{"date-parts":[[2022,6,15]]},"article-number":"bvac087"}}