{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T03:40:46Z","timestamp":1784346046532,"version":"3.55.0"},"reference-count":45,"publisher":"Wiley","license":[{"start":{"date-parts":[[2024,2,15]],"date-time":"2024-02-15T00:00:00Z","timestamp":1707955200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Diabetes UK studentship"},{"DOI":"10.13039\/501100000737","name":"University of Exeter","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000737","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Diabetes"],"published-print":{"date-parts":[[2024,2,15]]},"abstract":"<jats:p>Neonatal diabetes (ND) is a rare subtype of diabetes occurring in the first 6\u2009months of life. High incidence has been reported among populations with high rates of consanguineous marriage. However, there is paucity of reported data from sub-Saharan African countries. We report the incidence, genotype, and phenotype of ND in a large cohort from Sudan and compare these findings to regional and international data. All infants with onset of diabetes in the first 6\u2009months of life, attending one of the only two tertiary pediatric diabetes centers in Sudan, Gaafar Ibn Auf Pediatric Tertiary Hospital and Sudan Childhood Diabetes Center, during the period of January 2006 to December 2022 were included. Medical records were reviewed for demographic and clinical information. Genetic testing was performed for 48 patients by the Exeter Genomics laboratory in the UK and for one patient by the University of Cambridge, Metabolic Research Laboratories, UK. The estimated incidence was 4.8 per 100,000 live births. Forty-nine ND patients from 45 unrelated families were identified, and a genetic diagnosis was confirmed in 37 patients (75.5%) from 33 unrelated families. Consanguinity was reported in 34 families (75.6%). The commonest genetic cause for permanent neonatal diabetes was EIF2AK3 recessive variants causing Wolcott\u2013Rallison syndrome (18.92%). Pathogenic variants in two recently identified genes, ZNF808 and NARS2, were found in three patients each (8.11%). Activating variants in KCNJ11 and ABCC8 were identified in four (10.81%) and two (5.41%) patients, respectively. Apart from hyperglycemia, the commonest clinical presentations included dehydration, failure to thrive, and diabetic ketoacidosis. ND in Sudan has a different pattern of etiologies compared to Western and Asian populations yet similar to some Arab countries with EIF2AK3 mutations being the commonest cause. Pathogenic variants in recently identified genes reflect the impact of genome sequencing on increasing the rate of genetic diagnosis.<\/jats:p>","DOI":"10.1155\/2024\/2032425","type":"journal-article","created":{"date-parts":[[2024,2,15]],"date-time":"2024-02-15T18:05:08Z","timestamp":1708020308000},"page":"1-10","source":"Crossref","is-referenced-by-count":8,"title":["Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan"],"prefix":"10.1155","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9741-3383","authenticated-orcid":true,"given":"Samar S.","family":"Hassan","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrine and Diabetes, Gaafar Ibn Auf Pediatric Tertiary Hospital, Khartoum, Sudan"},{"name":"Sudan Childhood Diabetes Center, Khartoum, Sudan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0868-0915","authenticated-orcid":true,"given":"Salwa A.","family":"Musa","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrine and Diabetes, Gaafar Ibn Auf Pediatric Tertiary Hospital, Khartoum, Sudan"},{"name":"Sudan Childhood Diabetes Center, Khartoum, Sudan"},{"name":"Department of Pediatric and Child Health, Faculty of Medicine, AL-Neelain University, Khartoum, Sudan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1437-7891","authenticated-orcid":true,"given":"Elisa","family":"De Franco","sequence":"additional","affiliation":[{"name":"Institute of Biomedical and Clinical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Russel","family":"Donis Frew","sequence":"additional","affiliation":[{"name":"Institute of Biomedical and Clinical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8782-3813","authenticated-orcid":true,"given":"Omer O.","family":"Babiker","sequence":"additional","affiliation":[{"name":"Sudan Childhood Diabetes Center, Khartoum, Sudan"},{"name":"Department of Pediatrics, Faculty of Medicine, Omdurman Islamic University, Khartoum, Sudan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0823-1682","authenticated-orcid":true,"given":"Ghassan F.","family":"Mohamadsalih","sequence":"additional","affiliation":[{"name":"Division of Endocrine, Department of Pediatric Medicine, Sidra Hospital, Doha, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-0724-5950","authenticated-orcid":true,"given":"Areej A.","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrine, Department of Pediatrics, Prince Mohammed Bin Abdulaziz Hospital, Madinah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-2141-5444","authenticated-orcid":true,"given":"Samar","family":"Abu Samra","sequence":"additional","affiliation":[{"name":"Sudan Childhood Diabetes Center, Khartoum, Sudan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7121-8216","authenticated-orcid":true,"given":"Mohamed A.","family":"Abdullah","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrine and Diabetes, Gaafar Ibn Auf Pediatric Tertiary Hospital, Khartoum, Sudan"},{"name":"Sudan Childhood Diabetes Center, Khartoum, Sudan"},{"name":"Department of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","volume-title":"TABLE 7.2, Classification of Neonatal Diabetes Mellitus","author":"M. 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