{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T06:29:40Z","timestamp":1793255380932,"version":"4.5.0"},"reference-count":18,"publisher":"Walter de Gruyter GmbH","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,3,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2017-0325_s_999_w2aab3b7c29b1b6b1aab1c16b1Aa\">\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>As K<jats:sub>ATP<\/jats:sub> channel mutations are the most common cause of neonatal diabetes mellitus (NDM) and patients with these mutations can be treated with oral sulfonylureas, empiric therapy is a common practice for NDM patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0325_s_998_w2aab3b7c29b1b6b1aab1c16b2Aa\">\n                  <jats:title>Case presentation:<\/jats:title>\n                  <jats:p>A non-syndromic, small for gestational age baby born to first-degree consanguineous parents was diagnosed with NDM. Because of hypo- and hyperglycemic episodes and variability in insulin requirement, we initiated a trial of glibenclamide, with a presumptive diagnosis of NDM caused by a K<jats:sub>ATP<\/jats:sub> channel mutation. However, this empiric sulfonylurea trial did not improve the patient\u2019s glycemic control and resulted in resistance to exogenous insulin. Genetic testing identified a previously reported homozygous <jats:italic>INS<\/jats:italic> promoter mutation (c.-331C&gt;G), which was not responsive to sulfonylurea therapy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0325_s_997_w2aab3b7c29b1b6b1aab1c16b3Aa\">\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p>In light of our results, we recommend to confirm the genetic diagnosis as soon as possible and decide on sulfonylurea treatment after a genetic diagnosis is confirmed.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2017-0325","type":"journal-article","created":{"date-parts":[[2018,1,6]],"date-time":"2018-01-06T22:16:20Z","timestamp":1515276980000},"page":"345-348","source":"Crossref","is-referenced-by-count":10,"title":["Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive <i>INS<\/i> gene mutation"],"prefix":"10.1515","volume":"31","author":[{"given":"Melek","family":"Yildiz","sequence":"first","affiliation":[{"name":"Istanbul Sagl\u0131k Bilimleri Universitesi Kanuni Sultan Suleyman Egitim ve Arast\u0131rma Hastanesi, Cocuk Endokrinoloji Bolumu , 34303, K\u00fc\u00e7\u00fck\u00e7ekmece , Istanbul , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teoman","family":"Akcay","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism, Kanuni Sultan Suleyman Training and Research Hospital , Istanbul , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Banu","family":"Aydin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism, Kanuni Sultan Suleyman Training and Research Hospital , Istanbul , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdurrahman","family":"Akgun","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism, Kanuni Sultan Suleyman Training and Research Hospital , Istanbul , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beyza Belde","family":"Dogan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism, Kanuni Sultan Suleyman Training and Research Hospital , Istanbul , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"De Franco","sequence":"additional","affiliation":[{"name":"Molecular Genetics University of Exeter Medical School , Exeter, Devon , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sian","family":"Ellard","sequence":"additional","affiliation":[{"name":"Molecular Genetics University of Exeter Medical School , Exeter, Devon , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasan","family":"Onal","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism, Kanuni Sultan Suleyman Training and Research Hospital , Istanbul , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2018,1,6]]},"reference":[{"key":"2021021317394188640_j_jpem-2017-0325_ref_001_w2aab3b7c29b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Craig ME, Jefferies C, Dabelea D, Balde N, Seth A, et al. ISPAD Clinical Practice Consensus Guidelines 2014. Definition, epidemiology, and classification of diabetes in children and adolescents. Pediatr Diabetes 2014;15(Suppl 20):4\u201317.","DOI":"10.1111\/pedi.12186"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_002_w2aab3b7c29b1b6b1ab2b2b2Aa","doi-asserted-by":"crossref","unstructured":"Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab 2008;4:200\u201313.","DOI":"10.1038\/ncpendmet0778"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_003_w2aab3b7c29b1b6b1ab2b2b3Aa","doi-asserted-by":"crossref","unstructured":"McCarthy MI, Hattersley AT. Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes. Diabetes 2008;57:2889\u201398.","DOI":"10.2337\/db08-0343"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_004_w2aab3b7c29b1b6b1ab2b2b4Aa","doi-asserted-by":"crossref","unstructured":"Stoy J, Edghill EL, Flanagan SE, Ye H, Paz VP, et al. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci USA 2007;104:15040\u20134.","DOI":"10.1073\/pnas.0707291104"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_005_w2aab3b7c29b1b6b1ab2b2b5Aa","doi-asserted-by":"crossref","unstructured":"Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, et al. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008;57:1034\u201342.","DOI":"10.2337\/db07-1405"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_006_w2aab3b7c29b1b6b1ab2b2b6Aa","doi-asserted-by":"crossref","unstructured":"Polak M, Dechaume A, Cave H, Nimri R, Crosnier H, et al. Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group. Diabetes 2008;57:1115\u20139.","DOI":"10.2337\/db07-1358"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_007_w2aab3b7c29b1b6b1ab2b2b7Aa","doi-asserted-by":"crossref","unstructured":"Colombo C, Porzio O, Liu M, Massa O, Vasta M, et al. Seven mutations in the human insulin gene linked to permanent neonatal\/infancy-onset diabetes mellitus. J Clin Invest 2008;118:2148\u201356.","DOI":"10.1172\/JCI33777"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_008_w2aab3b7c29b1b6b1ab2b2b8Aa","doi-asserted-by":"crossref","unstructured":"Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, et al. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proc Natl Acad Sci USA 2010;107:3105\u201310.","DOI":"10.1073\/pnas.0910533107"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_009_w2aab3b7c29b1b6b1ab2b2b9Aa","doi-asserted-by":"crossref","unstructured":"Yang Y, Chan L. Monogenic diabetes: what it teaches us on the common forms of type 1 and type 2 diabetes. Endocr Rev 2016;37:190\u2013222.","DOI":"10.1210\/er.2015-1116"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_010_w2aab3b7c29b1b6b1ab2b2c10Aa","doi-asserted-by":"crossref","unstructured":"Stoy J, Steiner DF, Park SY, Ye H, Philipson LH, et al. Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene. Rev Endocr Metab Disord 2010;11:205\u201315.","DOI":"10.1007\/s11154-010-9151-3"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_011_w2aab3b7c29b1b6b1ab2b2c11Aa","doi-asserted-by":"crossref","unstructured":"Garin I, Perez de Nanclares G, Gastaldo E, Harries LW, Rubio-Cabezas O, et al. Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene. PLoS One 2012;7:e29205.","DOI":"10.1371\/journal.pone.0029205"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_012_w2aab3b7c29b1b6b1ab2b2c12Aa","doi-asserted-by":"crossref","unstructured":"Rafiq M, Flanagan SE, Patch AM, Shields BM, Ellard S, et al. Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care 2008;31:204\u20139.","DOI":"10.2337\/dc07-1785"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_013_w2aab3b7c29b1b6b1ab2b2c13Aa","doi-asserted-by":"crossref","unstructured":"Carmody D, Bell CD, Hwang JL, Dickens JT, Sima DI, et al. Sulfonylurea treatment before genetic testing in neonatal diabetes: pros and cons. J Clin Endocrinol Metab 2014;99:E2709\u201314.","DOI":"10.1210\/jc.2014-2494"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_014_w2aab3b7c29b1b6b1ab2b2c14Aa","doi-asserted-by":"crossref","unstructured":"Loomba-Albrecht LA, Glaser NS, Styne DM, Bremer AA. An oral sulfonylurea in the treatment of transient neonatal diabetes mellitus. Clin Ther 2009;31:816\u201320.","DOI":"10.1016\/j.clinthera.2009.04.003"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_015_w2aab3b7c29b1b6b1ab2b2c15Aa","doi-asserted-by":"crossref","unstructured":"Sovik O, Aagenaes O, Eide SA, Mackay D, Temple IK, et al. Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up. Pediatr Diabetes 2012;13:155\u201362.","DOI":"10.1111\/j.1399-5448.2011.00776.x"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_016_w2aab3b7c29b1b6b1ab2b2c16Aa","doi-asserted-by":"crossref","unstructured":"Zhang M, Chen X, Shen S, Li T, Chen L, et al. Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds. J Pediatr Endocrinol Metab 2015;28:877\u201384.","DOI":"10.1515\/jpem-2014-0429"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_017_w2aab3b7c29b1b6b1ab2b2c17Aa","doi-asserted-by":"crossref","unstructured":"Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, et al. Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia 2013;56:1958\u201363.","DOI":"10.1007\/s00125-013-2962-5"},{"key":"2021021317394188640_j_jpem-2017-0325_ref_018_w2aab3b7c29b1b6b1ab2b2c18Aa","doi-asserted-by":"crossref","unstructured":"Chakera AJ, Flanagan SE, Ellard S, Hattersley AT. Comment on: Khurana et al. The diagnosis of neonatal diabetes in a mother at 25 years of age. Diabetes Care 2012;35:e59.","DOI":"10.2337\/dc11-2439"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/jpem.2018.31.issue-3\/jpem-2017-0325\/jpem-2017-0325.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0325\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0325\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:43:11Z","timestamp":1619055791000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0325\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,6]]},"references-count":18,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2018,1,6]]},"published-print":{"date-parts":[[2018,3,28]]}},"alternative-id":["10.1515\/jpem-2017-0325"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2017-0325","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2018,1,6]]}}}