{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T21:46:29Z","timestamp":1791841589636,"version":"4.3.4"},"reference-count":41,"publisher":"The Endocrine Society","issue":"2","license":[{"start":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T00:00:00Z","timestamp":1750723200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Current practice guidelines recommend considering a diagnosis of maturity-onset diabetes of the young (MODY) in patients with diabetes with an affected parent but without typical features of type 1 or type 2 diabetes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To test if these criteria apply to a real-world cohort of racially\/ethnically diverse children with diabetes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed a retrospective case review of electronic medical records of youth diagnosed with MODY in a large academic pediatric hospital in Southwestern United States. Cases were ascertained based on the identification of a molecular diagnosis of MODY.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We studied 50 genetically confirmed cases of MODY: 60% GCK-MODY (MODY2, n = 30), 16% HNF1A-MODY (MODY3, n = 8), 18% HNF1B-MODY (MODY5, n = 9), 4% HNF4A-MODY (MODY1, n = 2), and 2% with a dual molecular diagnosis resulting from variants in more than one MODY gene (n = 1). Race\/ethnicity other than non-Hispanic White, lack of parental diabetes history, obesity\/overweight at diagnosis, dyslipidemia and\/or hypertension and acanthosis nigricans documented on physical examination were observed, respectively, in 52% (n = 26), 24% (n = 12), 22.2% (n = 11), 30% (n = 15), and 12% (n = 6) of MODY cases. Furthermore, islet antibody positivity was observed in 8% of the cases GCK-MODY (n = 4). The mean hemoglobin A1c at diabetes diagnosis was higher in patients with HNF4A-MODY (7.0%), HNF1A-MODY (6.7%), and HNF1B-MODY (6.7%), than in those with GCK-MODY (6.1%, P = 0.005). Four (13.3%) GCK-MODY patients had persistent proteinuria or neuropathy of undetermined cause.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The current guidelines to consider a diagnosis of MODY may not apply to a racially\/ethnically diverse US population of children with diabetes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgaf360","type":"journal-article","created":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T07:38:11Z","timestamp":1750750691000},"page":"e512-e521","source":"Crossref","is-referenced-by-count":4,"title":["Maturity-Onset Diabetes of the Young (MODY) in a Racially\/Ethnically Diverse Pediatric Population"],"prefix":"10.1210","volume":"111","author":[{"given":"Shilpi","family":"Relan","sequence":"first","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Pediatrics, Texas Children's Hospital , Baylor College of Medicine, Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-5938-1184","authenticated-orcid":false,"given":"Guido","family":"Alarcon","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Pediatrics, Texas Children's Hospital , Baylor College of Medicine, Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3721-614X","authenticated-orcid":false,"given":"Danielle","family":"Guffey","sequence":"additional","affiliation":[{"name":"Dan L Duncan Institute for Clinical and Translational Research , Baylor College of Medicine, Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles G","family":"Minard","sequence":"additional","affiliation":[{"name":"Dan L Duncan Institute for Clinical and Translational Research , Baylor College of Medicine, Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary E","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"Timmons","sequence":"additional","affiliation":[{"name":"Information Services, Texas Childrens Hospital, Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rona Y","family":"Sonabend","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Pediatrics, Texas Children's Hospital , Baylor College of Medicine, Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2111-271X","authenticated-orcid":false,"given":"Mustafa","family":"Tosur","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Pediatrics, Texas Children's Hospital , Baylor College of Medicine, Houston, TX 77030 ,","place":["USA"]},{"name":"USDA\/ARS Children\u2019s Nutrition Research Center, Baylor College of Medicine , Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5871-4645","authenticated-orcid":false,"given":"Maria J","family":"Redondo","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Pediatrics, Texas Children's Hospital , Baylor College of Medicine, Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4814-6765","authenticated-orcid":false,"given":"Jennifer E","family":"Posey","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2025,6,24]]},"reference":[{"issue":"3-4","key":"2026012101521056800_dgaf360-B1","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1515\/jpem-2014-0384","article-title":"Maturity-onset diabetes of the young (MODY): an update","volume":"28","author":"Anik","year":"2015","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"4","key":"2026012101521056800_dgaf360-B2","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1097\/MED.0b013e3283488275","article-title":"Review on monogenic 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