{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T02:49:17Z","timestamp":1793155757678,"version":"4.5.0"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,5,25]]},"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes present within the first six months of life. NDM can be transient (TNdM) or permanent (PNDM). About 70% of TNDM cases have abnormalities in the imprinted region of chromosome 6q24. In TNDM, diabetes remits at infancy whilst may relapse later in life. Chromosome 6q24 related TNDM usually relapses at the pubertal period, while in some cases, relapse occurs earlier. It has been reported that these cases can respond to sulfonylurea treatment, while more evidence and experience are needed.<\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n Herein, we reported relapse of diabetes at prepubertal age and its response to sulphonylurea therapy in a case with TNDM due to a homozygous c.7734C>T (p.R228C) variant in the ZFP57<\/jats:italic> gene.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n A response to the sulphonylurea monotherapy seems not optimal for relapsed TNDM due to chromosome 6q24 abnormalities.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2021-0538","type":"journal-article","created":{"date-parts":[[2022,2,26]],"date-time":"2022-02-26T21:46:47Z","timestamp":1645912007000},"page":"695-698","source":"Crossref","is-referenced-by-count":6,"title":["Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57<\/i> gene: relapse at prepubertal age"],"prefix":"10.1515","volume":"35","author":[{"given":"Tu\u011fba","family":"Kontbay","sequence":"first","affiliation":[{"name":"\u015eanl\u0131urfa Training and Research Hospital , \u015eanl\u0131urfa , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9153-8580","authenticated-orcid":false,"given":"M\u00fcge","family":"Atar","sequence":"additional","affiliation":[{"name":"\u015eanl\u0131urfa Training and Research Hospital , \u015eanl\u0131urfa , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fcseyin","family":"Demirbilek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Hacettepe University Faculty of Medicine , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2022,2,28]]},"reference":[{"key":"2023033121124484978_j_jpem-2021-0538_ref_001","unstructured":"Temple, IK. Diabetes Mellitus, 6q24-Related Transient Neonatal. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 2005. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1534\/ [Accessed 13 Sep 2018]."},{"key":"2023033121124484978_j_jpem-2021-0538_ref_002","doi-asserted-by":"crossref","unstructured":"Demirbilek, H, Arya, VB, Ozbek, MN, Houghton, JA, Baran, RT, Akar, M, et al.. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations. Eur J Endocrinol 2015;172:697\u2013705. https:\/\/doi.org\/10.1530\/eje-14-0852.","DOI":"10.1530\/EJE-14-0852"},{"key":"2023033121124484978_j_jpem-2021-0538_ref_003","doi-asserted-by":"crossref","unstructured":"Greeley, SAW, McCauley, MK, Philipson, LH, Sperling, MA. Monogenic diabetes mellitus: neonatal diabetes and maturity-onset diabetes of the young disordes of hypothalamo-pituitary axis. In: Sperling, MA, Majzoub, JA, Menon, RK, Stratakis, CA, editors. Sperling, Pediatric Endocrinology, 5th ed. Elselvier; 2021:279\u201394 pp.","DOI":"10.1016\/B978-0-323-62520-3.00010-5"},{"key":"2023033121124484978_j_jpem-2021-0538_ref_004","doi-asserted-by":"crossref","unstructured":"Flanagan, SE, Patch, AM, Mackay, DJ, Edghill, EL, Gloyn, AL, Robinson, D, et al.. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 2007;56:1930\u20137. https:\/\/doi.org\/10.2337\/db07-0043.","DOI":"10.2337\/db07-0043"},{"key":"2023033121124484978_j_jpem-2021-0538_ref_005","doi-asserted-by":"crossref","unstructured":"Mackay, DJ, Temple, IK. Transient neonatal diabetes mellitus type 1. Am J Med Genet C Semin Med Genet 2010;154C:335\u201342. https:\/\/doi.org\/10.1002\/ajmg.c.30272.","DOI":"10.1002\/ajmg.c.30272"},{"key":"2023033121124484978_j_jpem-2021-0538_ref_006","doi-asserted-by":"crossref","unstructured":"Mackay, DJ, Callaway, JL, Marks, SM, White, HE, Acerini, CL, Boonen, SE, et al.. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 2008;40:949\u201351. https:\/\/doi.org\/10.1038\/ng.187.","DOI":"10.1038\/ng.187"},{"key":"2023033121124484978_j_jpem-2021-0538_ref_007","doi-asserted-by":"crossref","unstructured":"Khadilkar, VV, Khadilkar, AV, Kapoor, RR, Hussain, K, Hattersley, AT, Ellard, S. KCNJ11 activating mutation in an Indian family with remitting and relapsing diabetes. Indian J Pediatr 2010;77:551\u20134. https:\/\/doi.org\/10.1007\/s12098-010-0062-9.","DOI":"10.1007\/s12098-010-0062-9"},{"key":"2023033121124484978_j_jpem-2021-0538_ref_008","doi-asserted-by":"crossref","unstructured":"Demiral, M, Demirbilek, H, \u00c7elik, K, Okur, N, Hussain, K, Ozbek, MN. Neonatal diabetes due to homozygous INS gene promoter mutations: highly variable phenotype, remission and early relapse during the first 3 years of life. Pediatr Diabetes 2020;21:1169\u201375. https:\/\/doi.org\/10.1111\/pedi.13079.","DOI":"10.1111\/pedi.13079"},{"key":"2023033121124484978_j_jpem-2021-0538_ref_009","doi-asserted-by":"crossref","unstructured":"Docherty, LE, Kabwama, S, Lehmann, A, Hawke, E, Harrison, L, Flanagan, SE, et al.. Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia 2013;56:758\u201362. https:\/\/doi.org\/10.1007\/s00125-013-2832-1.","DOI":"10.1007\/s00125-013-2832-1"},{"key":"2023033121124484978_j_jpem-2021-0538_ref_010","doi-asserted-by":"crossref","unstructured":"Boonen, SE, Mackay, DJ, Hahnemann, JM, Docherty, L, Gr\u00f8nskov, K, Lehmann, A, et al.. Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up. Diabetes Care 2013;36:505\u201312. https:\/\/doi.org\/10.2337\/dc12-0700.","DOI":"10.2337\/dc12-0700"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0538\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0538\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T10:45:50Z","timestamp":1680345950000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0538\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,28]]},"references-count":10,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2022,4,12]]},"published-print":{"date-parts":[[2022,5,25]]}},"alternative-id":["10.1515\/jpem-2021-0538"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2021-0538","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,28]]}}}