{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T12:35:31Z","timestamp":1765888531619,"version":"3.40.5"},"reference-count":36,"publisher":"S. Karger AG","issue":"7-8","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2020]]},"abstract":"<b><i>Background:<\/i><\/b> Diabetes diagnosed within the first 6 months of life is defined as neonatal diabetes mellitus (NDM). Mutations in the <i>KCNJ11<\/i>, <i>ABCC8,<\/i> and <i>INS<\/i> genes are the most common cause of permanent NDM. In populations with a high rate of consanguinity, Wolcott-Rallison syndrome caused by biallelic <i>EIF2AK3<\/i> mutations is common. <b><i>Methods:<\/i><\/b> We studied the clinical characteristics and underlying genetic cause of disease in 15 individuals with diabetes onset before 6 months of age as defined by sustained hyperglycaemia requiring insulin treatment. Patients who had a remission of the diabetes, defined by a normal blood glucose and HbA1c value without insulin or sulphonylurea (SU) treatment, within the first 18 months of life were classified as having transient NDM (TNDM). <b><i>Results:<\/i><\/b> We report 15 patients with NDM from 14 unrelated families, including 10 with reported parental consanguinity. 1\/15 patients had a remission of diabetes, leading to a diagnosis of TNDM. Mutations were detected in 80% (<i>n<\/i> = 12\/15) of the cohort (<i>ABCC8<\/i> [<i>n<\/i> = 4], <i>PTF1A<\/i>-distal enhancer [<i>n<\/i> = 3], <i>KCNJ11<\/i> [<i>n<\/i> = 2], <i>EIF2AK3<\/i> [<i>n<\/i> = 1], <i>INS<\/i> [<i>n<\/i> = 1], and <i>SLC19A2<\/i> [<i>n<\/i> = 1]). All cases were initially treated with multiple dose insulin injections. One patient with an <i>ABCC8<\/i> mutation transitioned from insulin to SU resulting in improved metabolic control at the age of 20 years. <b><i>Conclusion:<\/i><\/b> Although the number of individuals born to consanguineous parents was considerably high in this cohort, KATP channel mutations (<i>ABCC8<\/i>\/<i>KCNJ11<\/i>) were more common than <i>EIF2AK3<\/i> mutations (<i>n<\/i> = 6 vs. <i>n<\/i> = 1). Genetic analyses should be performed in all NDM cases due to the potential impact on treatment and prognosis. <\/jats:p>","DOI":"10.1159\/000512247","type":"journal-article","created":{"date-parts":[[2021,1,26]],"date-time":"2021-01-26T22:00:38Z","timestamp":1611698438000},"page":"423-432","source":"Crossref","is-referenced-by-count":4,"title":["Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience"],"prefix":"10.1159","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8971-6181","authenticated-orcid":false,"given":"Zehra Yavas","family":"Abali","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"De Franco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esin","family":"Karakilic Ozturan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6806-9678","authenticated-orcid":false,"given":"Sukran","family":"Poyrazoglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruveyde","family":"Bundak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Firdevs","family":"Bas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah 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