{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T12:28:55Z","timestamp":1766492935090,"version":"3.41.2"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,12,13]],"date-time":"2024-12-13T00:00:00Z","timestamp":1734048000000},"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:p>Short stature, joint hyperextension, ocular hypotension, Rieger abnormalities, and delayed tooth eruption (SHORT) syndrom is a rare primary autosomal dominant genetic disorder mainly caused by pathogenic loss-of-function variants in the phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) gene. We report the case of a Chinese adult female patient with SHORT syndrome, carrying a PIK3R1 gene variant (c.1945C &amp;gt; T), who developed abnormal glucose metabolism and severe postprandial insulin resistance over 9 years. Although there are currently no established treatment guidelines for insulin resistance in patients with SHORT syndrome, we implemented a comprehensive treatment plan, including lifestyle interventions, metformin, and voglibose for glucose control. After 6 months of continuous observation, the patient\u2019s blood glucose levels and insulin resistance improved significantly. This case study provides useful insights for future treatment strategies.<\/jats:p>","DOI":"10.3389\/fendo.2024.1467364","type":"journal-article","created":{"date-parts":[[2024,12,13]],"date-time":"2024-12-13T04:16:56Z","timestamp":1734063416000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Atypical diabetes arising from SHORT syndrome: a case report"],"prefix":"10.3389","volume":"15","author":[{"given":"Aili","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miao","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jialin","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,12,13]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1186\/s13052-017-0362-z","article-title":"SHORT syndrome in a two-year-old girl - case report","volume":"43","author":"Klatka","year":"2017","journal-title":"Ital J Pediatr"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-020-00843-1","article-title":"APDS2 and SHORT syndrome in a teenager with PIK3R1 pathogenic variant","volume":"40","author":"Ramirez","year":"2020","journal-title":"J Clin Immunol"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63078","article-title":"SHORT syndrome with microcephaly and developmental delay","volume":"191","author":"Patel","year":"2023","journal-title":"Am J Med Genet Part A"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1007\/s11892-022-01495-8","article-title":"SHORT syndrome: an update on pathogenesis and clinical spectrum","volume":"22","author":"Shvalb","year":"2022","journal-title":"Curr Diabetes Rep"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12263","article-title":"PIK3R1 mutations in SHORT syndrome","volume":"86","author":"Schroeder","year":"2014","journal-title":"Clin Genet"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1007\/s11892-022-01485-w","article-title":"Lipodystrophy for the diabetologist-what to look for","volume":"22","author":"Patni","year":"2022","journal-title":"Curr Diabetes Rep"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.023","article-title":"SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling","volume":"93","author":"Chudasama","year":"2013","journal-title":"Am J Hum Genet"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.005","article-title":"Mutations in PIK3R1 cause SHORT syndrome","volume":"93","author":"Dyment","year":"2013","journal-title":"Am J Hum Genet"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1111\/jdi.12825","article-title":"Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium-glucose cotransporter 2 inhibitor","volume":"9","author":"Hamaguchi","year":"2018","journal-title":"J Diabetes Invest"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.650920","article-title":"Transient neonatal diabetes mellitus in SHORT syndrome: A case report","volume":"9","author":"Kim","year":"2021","journal-title":"Front Pediatr"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.EJ20-0291","article-title":"Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review","volume":"68","author":"Masunaga","year":"2021","journal-title":"Endocr J"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.019","article-title":"PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy","volume":"93","author":"Thauvin-Robinet","year":"2013","journal-title":"Am J Hum Genet"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12688","article-title":"Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management","volume":"89","author":"Avila","year":"2016","journal-title":"Clin Genet"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00063.2017","article-title":"Mechanisms of insulin action and insulin resistance","volume":"98","author":"Petersen","year":"2018","journal-title":"Physiol Rev"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1172\/jci142245","article-title":"Severe insulin resistance syndromes","volume":"131","author":"Angelidi","year":"2021","journal-title":"J\u00a0Clin Invest"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1007\/s12016-019-08738-9","article-title":"Clinical, immunological, and genetic features in patients with activated PI3K\u03b4 Syndrome (APDS): a systematic review","volume":"59","author":"Jamee","year":"2020","journal-title":"Clin Rev Allergy Immunol"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2010.199","article-title":"Lipodystrophy: pathophysiology and advances in treatment","volume":"7","author":"Fiorenza","year":"2011","journal-title":"Nat Rev Endocrinol"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-2466","article-title":"The diagnosis and management of lipodystrophy syndromes: A multi-society practice guideline","volume":"101","author":"Brown","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-022-05720-7","article-title":"Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes","volume":"65","author":"Bonnefond","year":"2022","journal-title":"Diabetologia"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.2147\/tcrm.s50362","article-title":"Safety and efficacy of acarbose in the treatment of diabetes in Chinese patients","volume":"10","author":"He","year":"2014","journal-title":"Ther Clin Risk Manage"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1111\/jdi.13549","article-title":"Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up","volume":"12","author":"Yin","year":"2021","journal-title":"J Diabetes Invest"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.3389\/fchem.2021.639279","article-title":"Discovery of new \u03b1-glucosidase inhibitors: structure-based virtual screening and biological evaluation","volume":"9","author":"Liu","year":"2021","journal-title":"Front Chem"},{"key":"B23","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1186\/s13098-019-0477-z","article-title":"Metformin paradoxically worsens insulin resistance in SHORT syndrome","volume":"11","author":"Lewandowski","year":"2019","journal-title":"Diabetol Metab Syndr"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1385","article-title":"SHORT syndrome in two Chinese girls: A case report and review of the literature","volume":"8","author":"Zhang","year":"2020","journal-title":"Mol Genet Genom Med"},{"key":"B25","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1093\/nutrit\/nuz082","article-title":"Low-carbohydrate diets and cardiometabolic health: the importance of carbohydrate quality over quantity","volume":"78","author":"Sievenpiper","year":"2020","journal-title":"Nutr Rev"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.1003053","article-title":"Dietary fibre and whole grains in diabetes management: Systematic review and meta-analyses","volume":"17","author":"Reynolds","year":"2020","journal-title":"PloS Med"}],"container-title":["Frontiers in Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2024.1467364\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,13]],"date-time":"2024-12-13T04:16:59Z","timestamp":1734063419000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2024.1467364\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,13]]},"references-count":26,"alternative-id":["10.3389\/fendo.2024.1467364"],"URL":"https:\/\/doi.org\/10.3389\/fendo.2024.1467364","relation":{},"ISSN":["1664-2392"],"issn-type":[{"type":"electronic","value":"1664-2392"}],"subject":[],"published":{"date-parts":[[2024,12,13]]},"article-number":"1467364"}}