A Unique Phenotype of Maturity-Onset Diabetes of the Young With a Novel Disease-Causing 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 features in maturity-onset diabetes of the young (MODY)?
Conclusion
The patient with a novel INS variant was initially insulin-dependent but was able to maintain normal blood sugar levels after weight loss and lifestyle changes.
Supporting Evidence
- The patient was diagnosed with diabetes through an oral glucose tolerance test.
- He developed symptomatic hyperglycemia and required insulin and metformin for treatment.
- After 2.5 years of treatment and lifestyle changes, his blood sugar levels normalized.
Takeaway
A boy with a rare type of diabetes caused by a gene change was able to stop taking insulin after losing weight and changing his diet.
Methodology
The case involved genetic testing and monitoring of the patient's clinical course over 2.5 years.
Limitations
The study is based on a single case, which may not represent the broader population of MODY patients.
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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