A Unique Case of Maturity-Onset Diabetes of the Young Due to a New Insulin Gene Variant
Author Information
Author(s): Chua Cherie, Tan Clara Si Hua, Lim Su Chi, Vasanwala Rashida Farhad
Primary Institution: Kandang Kerbau Women's and Children's Hospital, Khoo Teck Puat Hospital
Hypothesis
Can a novel variant in the insulin gene cause atypical maturity-onset diabetes of the young (MODY) in an adolescent?
Conclusion
The patient with a novel insulin gene variant was able to normalize his glycemic profile after weight loss and discontinued pharmacotherapy.
Supporting Evidence
- The patient was diagnosed with MODY due to a novel INS variant after presenting with atypical features.
- He initially required high-dose insulin and metformin but later normalized his glycemic profile through lifestyle changes.
- Genetic testing confirmed a de novo missense variant in the INS gene.
Takeaway
This study shows that a teenager with a rare diabetes type can get better by losing weight and changing his lifestyle, even after needing insulin for a while.
Methodology
The case involved genetic testing and clinical management of a patient diagnosed with MODY due to a novel INS variant.
Limitations
The study is based on a single case, which may limit the generalizability of the findings.
Participant Demographics
The patient was an adolescent male with obesity and a family history of type 2 diabetes.
Digital Object Identifier (DOI)
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