{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T04:31:44Z","timestamp":1776832304896,"version":"3.51.2"},"reference-count":5,"publisher":"The Endocrine Society","issue":"4","license":[{"start":{"date-parts":[[2024,4,10]],"date-time":"2024-04-10T00:00:00Z","timestamp":1712707200000},"content-version":"vor","delay-in-days":19,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>48 XXYY syndrome is a rare polyploidy often compared with Klinefelter syndrome because of shared features such as tall stature, neurocognitive diseases, hypogonadism, and cardiac malformations. This population is believed to be predisposed to type 2 diabetes because of the presence of hypogonadism and central adiposity. We present a patient with XXYY syndrome who had an atypical and difficult-to-manage diabetes presentation. The patient was nonadherent to medication regimen with poorly controlled diabetes and hemoglobin A1c ranging from 12% to 14% (16.5-19.6\u2005mmol\/L). He lacked history of diabetes ketoacidosis, raising the question of maturity-onset diabetes of the young. Workup was negative for glutamic acid decarboxylase-65 and pancreatic islet cell antibody testing. Genetic testing for 5-gene panel for maturity-onset diabetes of the young was also negative. Distinct parts of his presentation make an accurate diabetes diagnosis very challenging. Clinicians should be aware of diabetes associations in patients with XXYY syndrome for optimization of care.<\/jats:p>","DOI":"10.1210\/jcemcr\/luae014","type":"journal-article","created":{"date-parts":[[2024,4,10]],"date-time":"2024-04-10T13:55:13Z","timestamp":1712757313000},"source":"Crossref","is-referenced-by-count":1,"title":["A Challenging Case of Diabetes in a Patient With XXYY Syndrome"],"prefix":"10.1210","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0088-2800","authenticated-orcid":false,"given":"Luisa M","family":"Bernacet Rivera","sequence":"first","affiliation":[{"name":"University of Connecticut Primary Care Residency Program, UConn Health, Farmington, CT 06032, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassaan B","family":"Aftab","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, University of Connecticut School of Medicine, UConn Health, Farmington, CT 06032, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7331-097X","authenticated-orcid":false,"given":"Faryal S","family":"Mirza","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, University of Connecticut School of Medicine, UConn Health, Farmington, CT 06032, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2024,4,10]]},"reference":[{"issue":"6","key":"2024042306004241700_luae014-B1","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1111\/j.1651-2227.2011.02235.x","article-title":"48, XXYY, 48, XXXY and 49, XXXXY syndromes: not just variants of Klinefelter syndrome","volume":"100","author":"Tartaglia","year":"2011","journal-title":"Acta Paediatr"},{"issue":"2","key":"2024042306004241700_luae014-B2","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1002\/ajmg.c.31789","article-title":"Rare sex chromosome variation 48, XXYY: an integrative review","volume":"184","author":"Blumling","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"3","key":"2024042306004241700_luae014-B3","first-page":"475","article-title":"A practical review of C-peptide testing in diabetes","volume":"8","author":"Leighton","year":"2017","journal-title":"Diabetes Ther Res Treat Educ Diabetes Relat Disord"},{"key":"2024042306004241700_luae014-B4","doi-asserted-by":"crossref","first-page":"612315","DOI":"10.1155\/2010\/612315","article-title":"48XXYY syndrome in an adult with type 2 diabetes mellitus, unilateral renal aplasia, and pigmentary retinitis","volume":"2010","author":"Zantour","year":"2010","journal-title":"Case Rep Med"},{"issue":"28","key":"2024042306004241700_luae014-B5","doi-asserted-by":"crossref","first-page":"7398","DOI":"10.1073\/pnas.1802889115","article-title":"Sex-chromosome dosage effects on gene expression in humans","volume":"115","author":"Raznahan","year":"2018","journal-title":"Proc Natl Acad Sci U S A"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/2\/4\/luae014\/57300653\/luae014.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/2\/4\/luae014\/57300653\/luae014.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,23]],"date-time":"2024-04-23T06:00:57Z","timestamp":1713852057000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luae014\/7643485"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,22]]},"references-count":5,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,3,22]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luae014","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,4]]},"published":{"date-parts":[[2024,3,22]]},"article-number":"luae014"}}