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• W4384522346 abstract "Mitochondrial diabetes mellitus is caused by dysfunctional mitochondria and is often misdiagnosed because of its various clinical manifestations. It's even rarer in children, and without a clear family history of diabetes with hearing loss, it's often difficult to diagnose.This is a case study of a family with maternally inherited diabetes mellitus and deafness (MIDD). The proband was an adolescent girl with diabetes with a family history of type 2 diabetes (T2DM) for three generations. Family members have undetected hearing impaired. The proband could not be diagnosed with type 1 diabetes (T1DM) or T2DM. Therefore, whole exome and mitochondrial gene sequencing was performed, which identified an m.3243A>G mutation in the mitochondrial DNA.This suggests that we should be alert to the possibility of hereditary diabetes, especially mitochondrial diabetes in patients with atypical diabetes. A thorough physical examination is very important. What is new: (1) Mitochondrial diabetes in childhood may not be accompanied by deafness even with highly heteroplasmy levels. (2) In MIDD patients, sometimes hearing loss cannot be perceived, which requires us to conduct detailed physical examinations and related examinations. (3) The use of metformin in MIDD patients did not have adverse consequences." @default.
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• W4384522346 date "2023-07-18" @default.
• W4384522346 modified "2023-10-16" @default.
• W4384522346 title "Case report: mitochondrial diabetes mellitus in a Chinese family due to m.3243A>G" @default.
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• W4384522346 doi "https://doi.org/10.1515/jpem-2023-0016" @default.
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