{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T12:07:42Z","timestamp":1783944462029,"version":"3.55.0"},"reference-count":64,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,12,5]],"date-time":"2019-12-05T00:00:00Z","timestamp":1575504000000},"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":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aims\/Introduction<\/jats:title><jats:p>Insulin resistance syndrome (IRS) of type\u00a0A or B is triggered by gene abnormalities of or autoantibodies to the insulin receptor, respectively. Rabson\u2013Mendenhall\/Donohue syndrome is also caused by defects of the insulin receptor gene (<jats:italic>INSR<\/jats:italic>), but is more serious than type\u00a0A IRS. Here, we carried out a nationwide survey of these syndromes in Japan.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>We sent questionnaires to a total of 1,957 academic councilors or responsible individuals at certified facilities of the Japan Diabetes Society, as well as at the department pediatrics or neonatology in medical centers with &gt;300 beds.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We received 904 responses with information on 23, 30 and 10 cases of type\u00a0A or B IRS and Rabson\u2013Mendenhall\/Donohue syndrome, respectively. Eight cases with type\u00a0A IRS\u2010like clinical features, but without an abnormality of <jats:italic>INSR<\/jats:italic>, were tentatively designated type\u00a0X IRS, with five of these cases testing positive for <jats:italic>PIK3R1<\/jats:italic> mutations. Fasting serum insulin levels at diagnosis (mean\u00a0\u00b1\u00a0standard deviation) were 132.0\u00a0\u00b1\u00a0112.4, 1122.1\u00a0\u00b1\u00a03292.5, 2895.5\u00a0\u00b1\u00a03181.5 and 145.0\u00a0\u00b1\u00a0141.4\u00a0\u03bcU\/mL for type\u00a0A IRS, type\u00a0B IRS, Rabson\u2013Mendenhall\/Donohue syndrome and type\u00a0X IRS, respectively. Type\u00a0A and type\u00a0X IRS, as well as Rabson\u2013Mendenhall\/Donohue syndrome were associated with low birthweight. Type\u00a0B IRS was diagnosed most frequently in older individuals, and was often associated with concurrent autoimmune conditions and hypoglycemia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Information yielded by this first nationwide survey should provide epidemiological insight into these rare conditions and inform better healthcare for affected patients.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdi.13171","type":"journal-article","created":{"date-parts":[[2019,11,2]],"date-time":"2019-11-02T10:29:02Z","timestamp":1572690542000},"page":"603-616","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Clinical characteristics of insulin resistance syndromes: A nationwide survey in Japan"],"prefix":"10.1111","volume":"11","author":[{"given":"Takehito","family":"Takeuchi","sequence":"first","affiliation":[{"name":"Division of Diabetes and Endocrinology Kobe University Graduate School of 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