• Baoyuan Wu, Yubing Tao, Qingqiang Wu, Caiyan Zou, Xuekui Liu, and Houfa Geng.
• Medical Science and Technology Innovation Center, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, China.
• Medicine (Baltimore). 2024 Oct 18; 103 (42): e40039e40039.

RationaleMitochondrial diabetes mellitus (MDM) is a rare form of diabetes characterized by mitochondrial dysfunction, leading to a diverse range of clinical manifestations that may result in misdiagnosis. Accurate identification of MDM is essential for proper management and reporting of diagnosed cases.Patient ConcernsThe patient was a young woman with a slender physique who presented with sensorineural hearing loss detected during auditory testing.DiagnosesAuditory testing confirmed sensorineural hearing loss, and further evaluation revealed impaired pancreatic β-cell function, indicating reduced insulin secretion. Genetic testing of blood samples identified the A3243G mitochondrial DNA mutation. The patient's family history was notable for hearing loss in her mother and maternal grandmother, who exhibited clinical features consistent with MDM.InterventionsClinical management focused on monitoring and addressing the metabolic and clinical needs associated with MDM.OutcomesThe diagnosis of MDM was established, highlighting the importance of recognizing the diverse clinical manifestations, including a rare case of spontaneous abortion during pregnancy.LessonsMDM presents with atypical clinical manifestations, and thorough physical examinations are crucial for its diagnosis. This case underscores the significance of genetic testing and family history in diagnosing MDM and the need for increased awareness among clinicians to prevent misdiagnosis.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

23 keywords...

hide…