{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T22:16:55Z","timestamp":1782598615230,"version":"3.54.5"},"reference-count":24,"publisher":"Korean Society of Pediatric Endocrinology","issue":"3","license":[{"start":{"date-parts":[[2022,1,26]],"date-time":"2022-01-26T00:00:00Z","timestamp":1643155200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["e-apem.org"],"crossmark-restriction":true},"short-container-title":["Ann Pediatr Endocrinol Metab"],"published-print":{"date-parts":[[2022,9,30]]},"abstract":"<jats:p>Purpose: In patients diagnosed with diabetes mellitus (DM) before the age of 12 months, there is an increasing recognition of diabetes caused by single-gene mutations, also known as monogenic diabetes of infancy or neonatal DM (NDM). This study aimed to classify patients at Alexandria University Children\u2019s Hospital (AUCH) diagnosed with infantile-onset DM into type 1 DM (T1DM) or NDM and to detect differences in molecular characteristics of NDM patients at our center in comparison to other countries.Methods: This retrospective\/prospective observational study was conducted on 39 patients diagnosed with infantile-onset DM (age of onset \u22641 year) at AUCH from January 2003 to November 2020. The patients were divided into 2 groups according to age at the onset of DM: \u22646 months and &gt;6\u201312 months. Molecular testing was done in patients diagnosed with DM at \u22646 months and those with negative autoantibodies.Results: Twelve patients were diagnosed with DM at age \u22646 months and 27 patients were diagnosed between 6\u201312 months. Seventeen patients (43.6%) had T1DM, whereas 9 patients (23.1%) had genetically confirmed NDM, including 3 harboring novel mutations. The most common genetic causes of NDM were &lt;i&gt;EIF2AK3&lt;\/i&gt; mutations (n=3), followed by &lt;i&gt;KCNJ11&lt;\/i&gt; (n=2) and &lt;i&gt;ABCC8&lt;\/i&gt; (n=2). Other mutations included &lt;i&gt;SLC19A2&lt;\/i&gt; (n=1) and &lt;i&gt;INS&lt;\/i&gt; (n=1). Three patients with potassium ATP channel mutations were transferred from insulin to sulfonylurea treatment.Conclusion: It is essential to identify patients with NDM clinically and confirm the diagnosis by molecular testing to distinguish them from T1DM as it helps in refining their management, predicting prognosis, and guiding genetic counseling.<\/jats:p>","DOI":"10.6065\/apem.2142184.092","type":"journal-article","created":{"date-parts":[[2022,1,26]],"date-time":"2022-01-26T00:10:50Z","timestamp":1643155850000},"page":"214-222","update-policy":"https:\/\/doi.org\/10.6065\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt"],"prefix":"10.6065","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3665-0729","authenticated-orcid":true,"given":"Yasmine","family":"Abdelmeguid","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3280-7082","authenticated-orcid":true,"given":"Ehsan Wafa","family":"Mowafy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6692-0243","authenticated-orcid":true,"given":"Iman","family":"Marzouk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1437-7891","authenticated-orcid":true,"given":"Elisa De","family":"Franco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2984-8924","authenticated-orcid":true,"given":"Shaymaa","family":"ElSayed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4096","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111\/pedi.12773"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/s0140-6736(15)60098-8"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s11154-010-9149-x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-013-2962-5"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.2337\/db15-1690"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159\/000354219"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-5448.2009.00571.x"},{"key":"ref9","first-page":"1034","volume-title":"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","author":"Edghill","year":"2008"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1172\/jci33777"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2014-0069"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.753"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1530\/eje-14-0852"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-002-0837-2"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-020-05276-4"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.2337\/dc17-1145"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.galenos.2020.2020.0093"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-4296"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2018-0434"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1159\/000369804"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1172\/jci25495"},{"key":"ref22","first-page":"637","volume-title":"Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study","author":"Bowman","year":"2018"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201629"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1016\/j.mam.2014.12.001"}],"container-title":["Annals of Pediatric Endocrinology &amp; 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