| A case of maturity-onset diabetes of the young type 4 in Korea |
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Geu-Meum Park1, Soo jung Lee2, Ja Young Seo3, Kyung In Lim1 |
1Department of Pediatrics, Gachon University Gil Medical Center, Incheon , Korea
2Department of Pediatrics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Korea
3Department of Laboratory medicine, Gachon University Gil Medical Center, Incheon, Korea |
Address for correspondence:
Kyung In Lim
Email: lki830720@gilhospital.com
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Received: September 9, 2021 Revised: November 8, 2021 Accepted: November 15, 2021 |
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| Abstract |
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Maturity-onset diabetes of the young (MODY) is a rare, autosomal dominant disease characterized by non-ketogenic diabetes mellitus (DM). MODY type 4, caused by PDX1 mutation, is a very rare subtype of MODY, especially in Korea. We report a case of a 10-year-old, non-obese girl with a family history of type 2 DM. After diagnosis, the patient’s serum glucose levels were well controlled using metformin monotherapy; however, the HbA1c level increased to 9.0%, approximately two years after treatment. No obesity or lifestyle problems were observed, and serum fasting C-peptide levels were within the normal range. Furthermore, no islet-related autoantibodies were detected. A genetic screening for MODY using a next-generation sequencing panel was performed, and a likely heterozygous pathogenic PDX1 mutation (p.Gly246ArgfsTer21) was identified. The PDX1 variant was not detected in her mother, implying that the mutation had arisen de novo in the proband. She was prescribed insulin degludec in addition to metformin therapy, which improved her hyperglycemia. This report presents a novel MODY type 4 phenotype and highlights the importance of genetic screening in patients with MODY characteristics. |
| Keywords:
Maturity-onset diabetes of the young, PDX1, MODY type 4 |
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