{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T10:09:44Z","timestamp":1779358184843,"version":"3.51.4"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:sec>\n<jats:title>Objective<\/jats:title>\n<jats:p>Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in <jats:italic>ABCC8<\/jats:italic> and <jats:italic>KCNJ11<\/jats:italic> genes (K<jats:sub>ATP<\/jats:sub>\/TNDM) or by chromosome 6q24 abnormalities (6q24\/TNDM). We wanted to assess whether these different genetic aetiologies result in distinct clinical features.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Design<\/jats:title>\n<jats:p>Retrospective analysis of the Italian data set of patients with TNDM.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Methods<\/jats:title>\n<jats:p>Clinical features and treatment of 22 K<jats:sub>ATP<\/jats:sub>\/TNDM patients and 12 6q24\/TNDM patients were compared.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>Fourteen K<jats:sub>ATP<\/jats:sub>\/TNDM probands had a carrier parent with abnormal glucose values, four patients with 6q24 showed macroglossia and\/or umbilical hernia. Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; \u22122.27 SD) than those with K<jats:sub>ATP<\/jats:sub> mutations (4.0 weeks; \u22121.04 SD) (<jats:italic>P<\/jats:italic>\u2009= 0.009 and <jats:italic>P<\/jats:italic>\u2009= 0.007, respectively). Median time to remission was longer in K<jats:sub>ATP<\/jats:sub>\/TNDM than 6q24\/TNDM (21.5 weeks vs 12 weeks) (<jats:italic>P<\/jats:italic>\u2009= 0.002). Two K<jats:sub>ATP<\/jats:sub>\/TNDM patients entered diabetes remission without pharmacological therapy. A proband with the <jats:italic>ABCC8<\/jats:italic>\/L225P variant previously associated with permanent neonatal diabetes entered 7-year long remission after 1 year of sulfonylurea therapy. Seven diabetic individuals with K<jats:sub>ATP<\/jats:sub> mutations were successfully treated with sulfonylurea monotherapy; four cases with relapsing 6q24\/TNDM were treated with insulin, metformin or combination therapy.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>If TNDM is suspected, K<jats:sub>ATP<\/jats:sub> genes should be analyzed first with the exception of patients with macroglossia and\/or umbilical hernia. Remission of diabetes without pharmacological therapy should not preclude genetic analysis. Early treatment with sulfonylurea may induce long-lasting remission of diabetes in patients with K<jats:sub>ATP<\/jats:sub> mutations associated with PNDM. Adult patients carrying K<jats:sub>ATP<\/jats:sub>\/TNDM mutations respond favourably to sulfonylurea monotherapy.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-20-1030","type":"journal-article","created":{"date-parts":[[2021,2,19]],"date-time":"2021-02-19T18:45:40Z","timestamp":1613760340000},"page":"575-585","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":23,"title":["Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy"],"prefix":"10.1093","volume":"184","author":[{"given":"Riccardo","family":"Bonfanti","sequence":"first","affiliation":[{"name":"1Department of Pediatrics, Pediatric Diabetology Unit, Diabetes Research Institute, IRCCS Ospedale San Raffaele, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dario","family":"Iafusco","sequence":"additional","affiliation":[{"name":"2Department of Pediatrics, University of Campania Luigi Vanvitelli, Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivana","family":"Rabbone","sequence":"additional","affiliation":[{"name":"3Department of Pediatrics, University of Turin, Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giacomo","family":"Diedenhofen","sequence":"additional","affiliation":[{"name":"4Department of Experimental Medicine, University of Rome Tor Vergata, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Bizzarri","sequence":"additional","affiliation":[{"name":"5Diabetology Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia Ippolita","family":"Patera","sequence":"additional","affiliation":[{"name":"5Diabetology Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"Reinstadler","sequence":"additional","affiliation":[{"name":"6S. 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