Evidence map›Paper›PMID 41275391›Full record

ArticleJournal of pediatric endocrinology & metabolism : JPEM2026

Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity.

Samar S Hassan, Salwa A Musa, Elisa De Franco, Rebbeca Myers, Racheal Van Heugten, Omer O Babiker, Areej A Ibrahim, Ghassan F MohamadSalih, Amna Ahmed, Jouyriah A Shatta and 3 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of pediatric endocrinology & metabolism : JPEM, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Samar S HassanDepartment of Pediatric Endocrine and Diabetes, Gaafar Ibnauf Pediatric Tertiary Hospital, Khartoum, Sudan.ORCID https://orcid.org/0000-0002-9741-3383
Salwa A MusaDepartment of Pediatric Endocrine and Diabetes, Gaafar Ibnauf Pediatric Tertiary Hospital, Khartoum, Sudan.ORCID https://orcid.org/0000-0002-0868-0915
Elisa De FrancoInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.ORCID https://orcid.org/0000-0002-1437-7891
Rebbeca MyersInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Racheal Van HeugtenExeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Omer O BabikerDepartment of Pediatrics, Faculty of Medicine, Omdurman Islamic University, Khartoum, Sudan.ORCID https://orcid.org/0000-0002-8782-3813
Areej A IbrahimDepartment of Pediatrics, Division of Pediatric Endocrine, Prince Mohammed Bin Abdulaziz Hospital, Madinah, Saudi Arabia.ORCID https://orcid.org/0009-0006-0724-5950
Ghassan F MohamadSalihDepartment of Pediatric Medicine, Division of Endocrine, Sidra Hospital, Doha, Qatar.ORCID https://orcid.org/0000-0003-0823-1682
Amna AhmedDepartment of Pediatric Endocrine and Diabetes, Gaafar Ibnauf Pediatric Tertiary Hospital, Khartoum, Sudan.
Jouyriah A ShattaDepartment of Pediatric Endocrine and Diabetes, Gaafar Ibnauf Pediatric Tertiary Hospital, Khartoum, Sudan.ORCID https://orcid.org/0000-0030-1110-5208
Olivia A Al-HassanPediatric Department, Women and Children Hospital, Alahmadi Health District, Hadiya, Kuwait.ORCID https://orcid.org/0000-0001-7784-7208
Kashyap A PatelInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.ORCID https://orcid.org/0000-0002-9240-8104
Mohamed A AbdullahDepartment of Pediatric Endocrine and Diabetes, Gaafar Ibnauf Pediatric Tertiary Hospital, Khartoum, Sudan.ORCID https://orcid.org/0000-0001-7121-8216

Funding

Wellcome Trust
6 · The paper itself

Abstract

objectivesMonogenic diabetes (MD) is a group of diabetes subtypes caused by defects in single genes. We report phenotypes and genotypes of MD among Sudanese children.

methodsReferred patients (from birth to 18 years of age) with diabetes and a clinical diagnosis of MD to Gaafar Ibnauf Pediatric Tertiary Hospital or the Sudan Childhood Diabetes Center between January 2006 and April 2023 were included. Patients were divided into two groups based on onset of diabetes before six months of age (Group 1, or neonatal diabetes mellitus) or after (Group 2, or non-neonatal diabetes mellitus). Genetic testing was performed for 87 patients at the Exeter Genomics laboratory and for one patient at the University of Cambridge, Metabolic Research Laboratories, UK.

resultsOut of 88 patients, 50 were from Group 1 and 38 from Group 2. We reported consanguinity in 63.6 % of the cohort and identified disease-causing variants for 18 genes in 43.2 % (Group 1) and 37.5 % (Group 2) of patients from the total cohort. The commonest causes in Group 1 and Group 2 were pathogenic variants in the

conclusionsCharacterization of MD in Sudan showed a predominance of syndromic forms. Genetic studies conducted on consanguineous populations may raise higher probabilities in identifying rare genes.

Indexed as

ConsanguinityDiabetes MellitusDiabetes Mellitus, Type 1MutationAdolescentChildChild, PreschoolFemaleFollow-Up StudiesGenotypeHumansInfantInfant, NewbornMalePhenotypePrognosismonogenic diabetesneonatal diabetes mellitusSudansyndromic diabetesWolcott-Rallison syndromewolfram’s syndrome

Identifiers

PMID41275391
PMCPMC12780942

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.