{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T04:37:37Z","timestamp":1785818257387,"version":"3.56.0"},"reference-count":42,"publisher":"The Endocrine Society","issue":"9","license":[{"start":{"date-parts":[[2024,2,26]],"date-time":"2024-02-26T00:00:00Z","timestamp":1708905600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of University and Research"},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["PE-2011-02350284"],"award-info":[{"award-number":["PE-2011-02350284"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>In the last decade the Sanger method of DNA sequencing has been replaced by next-generation sequencing (NGS). NGS is valuable in conditions characterized by high genetic heterogeneity such as neonatal diabetes mellitus (NDM).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To compare results of genetic analysis of patients with NDM and congenital severe insulin resistance (c.SIR) identified in Italy in 2003-2012 (Sanger) vs 2013-2022 (NGS).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We reviewed clinical and genetic records of 104 cases with diabetes onset before 6 months of age (NDM + c.SIR) of the Italian dataset.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Fifty-five patients (50 NDM + 5 c.SIR) were identified during 2003-2012 and 49 (46 NDM + 3 c.SIR) in 2013-2022. Twenty-year incidence was 1:103 340 (NDM) and 1:1 240 082 (c.SIR) live births. Frequent NDM\/c.SIR genetic defects (KCNJ11, INS, ABCC8, 6q24, INSR) were detected in 41 and 34 probands during 2003-2012 and 2013-2022, respectively. We identified a pathogenic variant in rare genes in a single proband (GATA4) (1\/42 or 2.4%) during 2003-2012 and in 8 infants (RFX6, PDX1, GATA6, HNF1B, FOXP3, IL2RA, LRBA, BSCL2) during 2013-2022 (8\/42 or 19%, P = .034 vs 2003-2012). Notably, among rare genes 5 were recessive. Swift and accurate genetic diagnosis led to appropriate treatment: patients with autoimmune NDM (FOXP3, IL2RA, LRBA) were subjected to bone marrow transplant; patients with pancreas agenesis\/hypoplasia (RFX6, PDX1) were supplemented with pancreatic enzymes, and the individual with lipodystrophy caused by BSCL2 was started on metreleptin.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>NGS substantially improved diagnosis and precision therapy of monogenic forms of neonatal diabetes and c.SIR in Italy.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgae095","type":"journal-article","created":{"date-parts":[[2024,2,26]],"date-time":"2024-02-26T21:17:02Z","timestamp":1708982222000},"page":"2349-2357","source":"Crossref","is-referenced-by-count":18,"title":["The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022"],"prefix":"10.1210","volume":"109","author":[{"given":"Novella","family":"Rapini","sequence":"first","affiliation":[{"name":"Monogenic Diabetes Clinic, Endocrinology and Diabetes Unit, Bambino Ges\u00f9 Children's Hospital, IRCCS , 00165 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1528-0012","authenticated-orcid":false,"given":"Maurizio","family":"Delvecchio","sequence":"additional","affiliation":[{"name":"Metabolic Disorder and Diabetes Unit, \u201cGiovanni XXIII\u201d Children Hospital , 70100 Bari , Italy"},{"name":"Unit of Pediatrics, Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila , 67100 L'Aquila , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mafalda","family":"Mucciolo","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu\u0300 Children's Hospital, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario","family":"Ruta","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu\u0300 Children's Hospital, IRCCS , 00146 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Rabbone","sequence":"additional","affiliation":[{"name":"Department of Health Sciences, Division of Pediatrics, University of Eastern Piedmont , 28100 Novara , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentino","family":"Cherubini","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Diabetology Unit, Department of Women's and Children's Health, Azienda Ospedaliero Universitaria delle Marche, G. 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