Case report: mitochondrial diabetes mellitus in a Chinese family due to m.3243A>G
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Wei Bai
Abstract
Objectives
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.
Case presentation
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.
Conclusions
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.
Acknowledgments
The authors thank the patient and her family who have participated in this study and all the grant supports that enabled this research.
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Research funding: This study was supported by grants from the National High Level Hospital Clinical Research Funding (High Quality Clinical Research Project of Peking University First Hospital) (No. 2022CR69); Natural Science Foundation of Beijing Municipality (No. 7212116); National Natural Science Foundation of China (No. 82171393); Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases (No. BZ0317).
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Author contributions: Hui Xiong conceived and supervised the study; Hui Xiong and Nan Gu designed the study; Wei Bai, Qian Zhang, Yanbin Fan, and Yinan Ma performed the research; Wei Bai, Qian Zhang and Tianyan Han wrote the manuscript; Yao Zhang and Furong Liang made manuscript revisions. All authors reviewed the results and approved the final version of the manuscript.
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Competing interests: The authors declare they have no competing interests.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: The study was approved by the Ethics Committee of Peking University First Hospital (No. 2015[916], Beijing, China). All participants signed an informed consent to participate in this study.
References
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Articles in the same Issue
- Frontmatter
- Original Articles
- Metabolic risk factors in prepubertal and pubertal patients with overweight and obesity
- Blood pressure in girls with central precocious puberty receiving GnRH analogue therapy
- Norethindrone dosing for adequate menstrual suppression in adolescents
- Apparent diffusion coefficient (ADC) measurements and morphometric evaluation of the cranium in age-matched children with central precocious puberty
- Characteristics of vitamin D deficiency hypocalcemia inpatient admissions at a single tertiary center
- Early pregnancy exposure of maternal triglyceride levels and its effects on birth weight
- Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan
- Congenital hypothyroidism in Bogotá, Colombia: a current description (2015–2021)
- Case Reports
- Case report: mitochondrial diabetes mellitus in a Chinese family due to m.3243A>G
- Novel pathogenic variant of DICER1 in an adolescent with multinodular goiter, ovarian Sertoli–Leydig cell tumor and pineal parenchymal tumor of intermediate differentiation
- Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: report of three female cases from two pedigrees
- A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency
- The benefit of rhGH therapy in a Chinese child with 12q14 microdeletion syndrome: a case report
- Adjustment of octreotide dose given via insulin pump based on continuous glucose monitoring (CGM) in a child with congenital hyperinsulinism
