Evaluation of clinical characteristics of syndromic and non-syndromic monogenic diabetes presented at neonatal and childhood period in a highly consanguineous population

Amine Aktar; Ruken Yıldırım; Şervan Ozalkak; Taş Funda Feryal; Belma Haliloğlu; Franco Elisa De; Flanagan Sarah E; Huseyin Demirbilek; Ozbek Mehmet Nuri

doi:10.1530/endoabs.110.EP698

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Endocrine Abstracts (2025) 110 EP698 | DOI: 10.1530/endoabs.110.EP698

ECEESPE2025 ePoster Presentations Fetal and Neonatal Endocrinology (27 abstracts)

Evaluation of clinical characteristics of syndromic and non-syndromic monogenic diabetes presented at neonatal and childhood period in a highly consanguineous population

Amine Aktar ¹ , Ruken Yıldırım ¹ , Şervan Özalkak ¹ , Funda Feryal Taş ² , Belma Haliloğlu ³ , Elisa De Franco ⁴ , Sarah E Flanagan ⁴ , Huseyin Demirbilek ⁵ & Mehmet Nuri Ozbek ⁶

Author affiliations

¹Diyarbakır Children’s Hospital, Clinics of Pediatric Endocrinology, Diyarbakir, Türkiye; ²Gazi Yaşargil Training and Research Hospital, Paediatric Endocrinology, Diyarbakir, Türkiye; ³Marmara University, School of Medicine, Deparmtent of Paediatric Endocrinology and Diabetes, Istanbul, Türkiye; ⁴Exeter University Medical School, Department of Clinical and Biomedical Science, Exeter, United Kingdom; ⁵Hacettepe University Faculty of Medicine, Department of Paediatric Endocrinology, Ankara, Türkiye; ⁶Mardin Artuklu University Medical School, Paediatric Endocrinology, Mardin, Türkiye

JOINT3856

Aim: Monogenic diabetes (MD) accounts for the underlying aetiology of a small group of diabetes cases characterized by a single gene mutation. Given its heterogeneous course, identifying the relevant gene mutation and describing its characteristics is fundamentally important for the management and genetic counselling. In this study, we assessed a large series of patients with syndromic and non-syndromic MD who presented during neonatal and childhood periods.

Methods: A total of 46 patients with syndromic and non-syndromic MD from 41 families who presented between 2010 and 2022 were included. Family history, clinical and laboratory characteristics, and molecular genetics analysis results were obtained from hospital records.

Results: A mutation was detected in 44 of 46 (95.6%) patients. In non-syndromic MD, ABCC8/KCNJ11 mutations (n= 6), INS mutations (n= 5), and GCK mutations (n= 5) were the most prevalent underlying causes. PTF1A mutations (n= 11) and EIF2AK3 mutations (n= 9) were most commonly observed in syndromic MD. The rates of parental consanguinity were 64.7% in patients with non-syndromic MD and 96.3% in patients with syndromic MD (P = 0.015). A successful transfer from insulin to sulfonylurea (SU) therapy was achieved in 2 patients with ABCC8 and two patients with KCNJ11 mutations.

Conclusion: In our large cohort, we found a high detection rate of underlying genetic causes (95.6%) for neonatal and childhood-onset MD which was attributed to enrichment by the high rate of consanguinity. Biallelic and syndromic forms were highly prevalent, especially within consanguineous populations. In patients with MD who have consanguineous parents, biallelic gene mutations that cause syndromic and non-syndromic diabetes should be prioritized in molecular genetics analysis.