{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T21:04:43Z","timestamp":1774559083774,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,3,25]],"date-time":"2018-03-25T00:00:00Z","timestamp":1521936000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Diabetes Invest"],"published-print":{"date-parts":[[2018,9]]},"abstract":"Abstract<\/jats:title>A Japanese woman aged in her late 30s with severe insulin resistance and bodily features including a triangular face, prominent forehead, small chin, large and low\u2010set ears, and ocular depression was investigated. A similar phenotype was not observed in other family members with the exception of her son, suggesting that the condition was caused by a de novo mutation that was transmitted from mother to son. Exome analysis showed the presence in the proband and her son of a c.1945C>T mutation in PIK<\/jats:styled-content>3R1<\/jats:italic>, a common mutation associated with SHORT<\/jats:styled-content> (short stature, hyperextensibility of joints and\/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay) syndrome. Administration of a sodium\u2013glucose cotransporter\u00a02 inhibitor lowered the proband's hemoglobin A1c<\/jats:sub> level and allowed a reduction in her insulin dose without treatment\u2010related adverse events including ketoacidosis, exaggerated loss of body mass or hypoglycemia. Sodium\u2013glucose cotransporter\u00a02 inhibitors might thus offer an additional option for the treatment of genetic syndromes of severe insulin resistance.<\/jats:p>","DOI":"10.1111\/jdi.12825","type":"journal-article","created":{"date-parts":[[2018,2,24]],"date-time":"2018-02-24T18:36:34Z","timestamp":1519497394000},"page":"1224-1227","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Treatment of a case of severe insulin resistance as a result of a PIK<\/scp>3R1<\/i> mutation with a sodium\u2013glucose cotransporter\u00a02 inhibitor"],"prefix":"10.1111","volume":"9","author":[{"given":"Tetsushi","family":"Hamaguchi","sequence":"first","affiliation":[{"name":"Division of Diabetes and Endocrinology Tokyo 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