Published online Dec 15, 2023. doi: 10.4239/wjd.v14.i12.1877
Peer-review started: August 26, 2023
First decision: October 9, 2023
Revised: October 19, 2023
Accepted: December 4, 2023
Article in press: December 4, 2023
Published online: December 15, 2023
Maturity-onset diabetes of the young 10 caused by the c.4G>A (p.Ala2Thr) mutation is extremely rare, with only two reported studies to date. Herein, we report another case that differs from previous cases in phenotype.
The proband developed diabetes at the age of 27 years, despite having a normal body mass index (BMI). She exhibited partial impairment of islet function, tested positive for islet antibodies, and required high doses of insulin. Her sister also carried the c.4G>A (p.Ala2Thr) mutation, and their mother was strongly suspected to carry the mutated gene. Her sister developed diabetes around 40 years of age and required high doses of insulin, while the mother was diagnosed in her 20s and was managed with oral hypoglycemic agents; neither of them were obese.
p.Ala2Thr mutation carriers often experience relatively later onset and normal BMI. Treatment regimens vary between individuals.
Core Tip: Maturity-onset diabetes of the young (MODY) 10 is uncommon, especially when caused by the c.4G>A (p.Ala2Thr) mutation, and thus, our knowledge of this disease is limited. Herein, we present an atypical MODY10 case resulting from the p.Ala2Thr mutation, which differs from previous reports and deviates from the prevalent phenotype of MODY. This patient exhibited insulin resistance and positive islet autoantibodies, as well as demonstrated significant familial inheritance and hearing impairment, which increased the potential for misdiagnosis.