Maturity-Onset Diabetes of the Young Associated with an ABCC8 Variant
https://doi.org/10.15605/jafes.041.S1
- Author:
Jia Cheng Ong
1
;
Suhaimi Hussain
2
Author Information
1. Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia;Hospital Pakar Universiti Sains Malaysia (HUSM);Faculty of Medicine, Universiti Sultan Zainal Abidin
2. Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia;Hospital Pakar Universiti Sains Malaysia (HUSM)
- Publication Type:Journal Article
- MeSH:
Mason-Type Diabetes
- From:
Journal of the ASEAN Federation of Endocrine Societies
2026;41(S1):143-
- CountryPhilippines
- Language:English
-
Abstract:
Introduction:Maturity-onset diabetes of the young (MODY) is a form
of monogenic diabetes typically affecting young adults.
There are 14 different genes that lead to pancreatic cell
dysfunction causing MODY. Occurrence of MODY12 by
ATP binding cassette subfamily C member 8 (ABCC8) gene
is rare, comprising 1% of all the MODY subtypes.
Case:A 13-year-old male was incidentally found to be hyperglycemic during medical examination. He denied any hyperosmolar symptoms, polyphagia, nocturia and
recurrent skin infection. He did not have any history of
neonatal diabetes mellitus. His father had been diagnosed
with type 1 diabetes mellitus at the age of 22 years old.
On examination, he is thinly built with no goiter or
acanthosis nigricans. HbA1c was 8.8%. His insulin
antibodies were negative. Whole exome sequencing
revealed a heterozygous missense mutation in ABCC8 gene (c.2209G>A; p.Val737Ile), where there was a single
nucleotide mutation of Valine to Isoleucine at the position
737 of the ABCC8 gene. This variant was reported in
the ClinVar database as having uncertain significance.
Considering the patient’s clinical features, this mutation
is responsible for the disease. He was initially treated
with sulfonylurea, namely glibenclamide; however, his
continuous glucose monitoring was not optimized and
required change to insulin therapy.
Conclusion:This case explores the phenotypic spectrum of ABCC8-
related MODY, showing that this mutation can present
without neonatal diabetes and emphasizing the requirement of insulin as part of treatment. Genetic testing should
be conducted in patients presenting with atypical clinical
features of diabetes mellitus to initiate personalized
treatment strategies.
- Full text:2026081013542873048EP_P016a.pdf
