{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T01:41:45Z","timestamp":1792028505906,"version":"4.4.0"},"reference-count":32,"publisher":"The Endocrine Society","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,6,1]]},"DOI":"10.1210\/jc.2016-2490","type":"journal-article","created":{"date-parts":[[2017,4,19]],"date-time":"2017-04-19T11:09:53Z","timestamp":1492600193000},"page":"1826-1834","source":"Crossref","is-referenced-by-count":101,"title":["Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012"],"prefix":"10.1210","volume":"102","author":[{"given":"Maurizio","family":"Delvecchio","sequence":"first","affiliation":[{"name":"Department of Pediatric Science and Surgery, Pediatric Hospital \u201cPoliclinico-Giovanni XXIII\u201d of Bari, Bari 072006, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enza","family":"Mozzillo","sequence":"additional","affiliation":[{"name":"Department of Translational Medical Science, Section of Pediatrics, Regional Center of Pediatric Diabetology, University of Naples Federico II, Naples 80138, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Salzano","sequence":"additional","affiliation":[{"name":"Department of Pediatric Sciences, University of Messina, Messina 98122, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Iafusco","sequence":"additional","affiliation":[{"name":"Regional Center for Pediatric Diabetes \u201cG. Stoppoloni,\u201d Department of Pediatrics, Second University of Naples, Naples 80138, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Frontino","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrine Unit, Diabetes Research Institute (OSR-DRI), Scientific Institute Hospital San Raffaele, Milan 20132, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia I.","family":"Patera","sequence":"additional","affiliation":[{"name":"Endocrinology and Diabetes Unit, University Department of Pediatric Medicine, Bambino Ges\u00f9 Children Hospital, Rome 00165, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Rabbone","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Turin, Regina Margherita Hospital, Turin 10126, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentino","family":"Cherubini","sequence":"additional","affiliation":[{"name":"S.O.D. Pediatric Diabetes, Department of Women\u2019s and Children Health, Salesi Hospital, Ancona 60123, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Grasso","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine and Surgery, University of Rome Tor Vergata, Rome 00173, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Tinto","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, and CEINGE, Advanced Biotechnology, Naples 80138, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Giglio","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences \u201cMario Serio,\u201d and Meyer Children\u2019s University Hospital, University of Florence, Florence 50121, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Contreas","sequence":"additional","affiliation":[{"name":"Pediatric Diabetes and Metabolic Disorders Unit, Department of Surgical Science, Dentistry, Ginecology and Pediatrics, University of Verona, Verona 37129, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Di Paola","sequence":"additional","affiliation":[{"name":"Research Unit of Diabetes and Endocrine Disease, IRCCS Casa del Sollievo della Sofferenza, San Giovanni Rotondo 71013, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Salina","sequence":"additional","affiliation":[{"name":"Istituto Giannina Gaslini, Regional Center for Pediatric Diabetes, Genoa 16147, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vittoria","family":"Cauvin","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Santa Chiara Hospital, Trento 38122, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Tumini","sequence":"additional","affiliation":[{"name":"Center of Pediatric Diabetology, University of Chieti, Chieti 66100, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"d\u2019Annunzio","sequence":"additional","affiliation":[{"name":"Istituto Giannina Gaslini, Regional Center for Pediatric Diabetes, Genoa 16147, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Iughetti","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena 41122, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vilma","family":"Mantovani","sequence":"additional","affiliation":[{"name":"Center for Applied Biomedical Research (CRBA) and Medical Genetics Unit, S. Orsola University Hospital, Bologna 40138, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Maltoni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, S. Orsola-Malpighi University Hospital, Bologna 40138, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Toni","sequence":"additional","affiliation":[{"name":"Juvenile Diabetes Center, Meyer Children's Hospital, Florence 50139, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Marigliano","sequence":"additional","affiliation":[{"name":"Pediatric Diabetes and Metabolic Disorders Unit, Department of Surgical Science, Dentistry, Ginecology and Pediatrics, University of Verona, Verona 37129, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Barbetti","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine and Surgery, University of Rome Tor Vergata, Rome 00173, Italy"},{"name":"Bambino Ges\u00f9 Children Hospital, IRCCS, Rome 00165, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"for the Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2017,2,16]]},"reference":[{"issue":"3","key":"key\n\t\t\t\t20180328160011_B1","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/j.ecl.2010.05.011","article-title":"Epidemiology of type 1 diabetes","volume":"39","author":"Maahs","year":"2010","journal-title":"Endocrinol Metab Clin North Am"},{"issue":"7","key":"key\n\t\t\t\t20180328160011_B2","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1007\/s00125-013-2916-y","article-title":"Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry","volume":"56","author":"Irgens","year":"2013","journal-title":"Diabetologia"},{"issue":"5","key":"key\n\t\t\t\t20180328160011_B3","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1111\/j.1464-5491.2009.02720.x","article-title":"Phenotypical aspects of maturity-onset diabetes of the young (MODY diabetes) in comparison with type 2 diabetes mellitus (T2DM) in children and adolescents: experience from a large multicentre database","volume":"26","author":"Schober","year":"2009","journal-title":"Diabet Med"},{"issue":"2","key":"key\n\t\t\t\t20180328160011_B4","doi-asserted-by":"crossref","first-page":"402","DOI":"10.2337\/dc13-1838","article-title":"Prevalence of diabetes in U.S. youth in 2009: the SEARCH for diabetes in youth study","volume":"37","author":"Pettitt","year":"2014","journal-title":"Diabetes Care"},{"issue":"3","key":"key\n\t\t\t\t20180328160011_B5","doi-asserted-by":"crossref","first-page":"e15","DOI":"10.1016\/j.diabres.2015.01.003","article-title":"Survey on etiological diagnosis of diabetes in 1244 Italian diabetic children and adolescents: impact of access to genetic testing","volume":"107","author":"Mozzillo","year":"2015","journal-title":"Diabetes Res Clin Pract"},{"issue":"5","key":"key\n\t\t\t\t20180328160011_B6","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1007\/s00592-016-0859-8","article-title":"GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated","volume":"53","author":"Carmody","year":"2016","journal-title":"Acta Diabetol"},{"issue":"6","key":"key\n\t\t\t\t20180328160011_B7","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.2337\/dc11-1243","article-title":"Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young","volume":"35","author":"Thanabalasingham","year":"2012","journal-title":"Diabetes Care"},{"issue":"9","key":"key\n\t\t\t\t20180328160011_B8","doi-asserted-by":"crossref","first-page":"915","DOI":"10.2337\/diacare.19.9.915","article-title":"Diabetes complications in NIDDM kindreds linked to the MODY3 locus on chromosome 12q","volume":"19","author":"Velho","year":"1996","journal-title":"Diabetes Care"},{"issue":"7","key":"key\n\t\t\t\t20180328160011_B9","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1111\/dme.12992","article-title":"Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort","volume":"33","author":"Bacon","year":"2016","journal-title":"Diabet Med"},{"issue":"3","key":"key\n\t\t\t\t20180328160011_B10","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1001\/jama.2013.283980","article-title":"Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia","volume":"311","author":"Steele","year":"2014","journal-title":"JAMA"},{"issue":"8","key":"key\n\t\t\t\t20180328160011_B11","doi-asserted-by":"crossref","first-page":"e181","DOI":"10.2337\/dc14-0471","article-title":"No sign of proliferative retinopathy in 15 patients with permanent neonatal diabetes with a median diabetes duration of 24 years","volume":"37","author":"Iafusco","year":"2014","journal-title":"Diabetes Care"},{"issue":"10","key":"key\n\t\t\t\t20180328160011_B12","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1007\/s001250051531","article-title":"MODY 2 presenting as neonatal hyperglycemia: a need to reshape the definition of \u201cneonatal diabetes\u201d?","volume":"43","author":"Prisco","year":"2000","journal-title":"Diabetologia"},{"issue":"11","key":"key\n\t\t\t\t20180328160011_B13","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1016\/j.ejmg.2016.09.016","article-title":"Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype","volume":"59","author":"Piccini","year":"2016","journal-title":"Eur J Med Genet"},{"issue":"8","key":"key\n\t\t\t\t20180328160011_B14","doi-asserted-by":"crossref","first-page":"2877","DOI":"10.1172\/JCI35414","article-title":"Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations","volume":"118","author":"Pinney","year":"2008","journal-title":"J Clin Invest"},{"key":"key\n\t\t\t\t20180328160011_B15","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1186\/1471-2350-15-88","article-title":"A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2","volume":"15","author":"Mozzillo","year":"2014","journal-title":"BMC Med Genet"},{"issue":"5","key":"key\n\t\t\t\t20180328160011_B16","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1111\/j.1399-5448.2012.00921.x","article-title":"Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings","volume":"14","author":"Mozzillo","year":"2013","journal-title":"Pediatr Diabetes"},{"issue":"6","key":"key\n\t\t\t\t20180328160011_B17","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1007\/s00592-013-0490-x","article-title":"Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: is a Bartter-like syndrome a feature of congenital SIR?","volume":"50","author":"Grasso","year":"2013","journal-title":"Acta Diabetol"},{"issue":"8","key":"key\n\t\t\t\t20180328160011_B18","doi-asserted-by":"crossref","first-page":"1878","DOI":"10.2337\/dc11-0035","article-title":"MODY: history, genetics, pathophysiology, and clinical decision making","volume":"34","author":"Fajans","year":"2011","journal-title":"Diabetes Care"},{"issue":"7","key":"key\n\t\t\t\t20180328160011_B19","doi-asserted-by":"crossref","first-page":"1210","DOI":"10.2337\/diacare.24.7.1210","article-title":"Risk of type 1 diabetes development in children with incidental hyperglycemia: a multicenter Italian study","volume":"24","author":"Lorini","year":"2001","journal-title":"Diabetes Care"},{"issue":"3","key":"key\n\t\t\t\t20180328160011_B20","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/j.diabres.2011.09.011","article-title":"Reclassification of diabetes type in pediatric patients initially classified as type 2 diabetes mellitus: 15 years follow-up using routine data from the German\/Austrian DPV database","volume":"94","author":"Awa","year":"2011","journal-title":"Diabetes Res Clin Pract"},{"key":"key\n\t\t\t\t20180328160011_B21","doi-asserted-by":"crossref","first-page":"4055","DOI":"10.1210\/jc.2013-1279","article-title":"Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth","volume":"98","author":"Pihoker","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"key\n\t\t\t\t20180328160011_B22","doi-asserted-by":"crossref","first-page":"2504","DOI":"10.1007\/s00125-010-1799-4","article-title":"Maturity-onset diabetes of the young (MODY): how many cases are we missing?","volume":"53","author":"Shields","year":"2010","journal-title":"Diabetologia"},{"key":"key\n\t\t\t\t20180328160011_B23","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1111\/pedi.12192","article-title":"ISPAD Clinical Practice Consensus Guidelines 2014 Compendium. The diagnosis and management of monogenic diabetes in children and adolescents","volume":"15","author":"Rubio-Cabezas","year":"2014","journal-title":"Pediatr Diabetes"},{"issue":"4","key":"key\n\t\t\t\t20180328160011_B24","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1111\/dme.12662","article-title":"Treatment of young patients with HNF1A mutations (HNF1A-MODY)","volume":"32","author":"Raile","year":"2015","journal-title":"Diabet Med"},{"issue":"9","key":"key\n\t\t\t\t20180328160011_B25","doi-asserted-by":"crossref","first-page":"2503","DOI":"10.2337\/diabetes.54.9.2503","article-title":"Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy","volume":"54","author":"Hattersley","year":"2005","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t20180328160011_B26","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1111\/pedi.12179","article-title":"ISPAD Clinical Practice Consensus Guidelines 2014. Type 2 diabetes in the child and adolescent","volume":"15","author":"Zeitler","year":"2014","journal-title":"Pediatr Diabetes"},{"key":"key\n\t\t\t\t20180328160011_B27","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1186\/s13052-015-0179-6","article-title":"Organization and regional distribution of centers for the management of children and adolescents with diabetes in Italy","volume":"41","author":"Giorgetti","year":"2015","journal-title":"Ital J Pediatr"},{"issue":"2","key":"key\n\t\t\t\t20180328160011_B28","doi-asserted-by":"crossref","first-page":"333","DOI":"10.2337\/diacare.26.2.333","article-title":"Identifying hepatic nuclear factor 1\u03b1 mutations in children and young adults with a clinical diagnosis of type 1 diabetes","volume":"26","author":"Lambert","year":"2003","journal-title":"Diabetes Care"},{"key":"key\n\t\t\t\t20180328160011_B29","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1111\/pedi.12186","article-title":"ISPAD Clinical Practice Consensus Guidelines 2014. Definition, epidemiology, and classification of diabetes in children and adolescents","volume":"15","author":"Craig","year":"2014","journal-title":"Pediatr Diabetes"},{"issue":"4","key":"key\n\t\t\t\t20180328160011_B30","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/nrendo.2011.204","article-title":"Management of diabetes mellitus in infants","volume":"8","author":"Karges","year":"2011","journal-title":"Nat Rev Endocrinol"},{"issue":"1789","key":"key\n\t\t\t\t20180328160011_B31","first-page":"21","article-title":"Improving the detection and management of type 1 diabetes","volume":"260","author":"Hammond","year":"2016","journal-title":"Practitioner"},{"issue":"10","key":"key\n\t\t\t\t20180328160011_B32","doi-asserted-by":"crossref","first-page":"2631","DOI":"10.1007\/s00125-012-2621-2","article-title":"Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign","volume":"55","author":"Fendler","year":"2012","journal-title":"Diabetologia"}],"container-title":["The Journal of Clinical Endocrinology & Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/102\/6\/1826\/17665037\/jc.2016-2490.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,3,28]],"date-time":"2018-03-28T23:35:26Z","timestamp":1522280126000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/102\/6\/1826\/3001059"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,16]]},"references-count":32,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2017,2,16]]},"published-print":{"date-parts":[[2017,6,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2016-2490","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2017,6,1]]},"published":{"date-parts":[[2017,2,16]]}}}