Mitochondrial diabetes presenting with spontaneous abortion and ketoacidosis onset: A case report and literature review.

RATIONALE: Mitochondrial 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 CONCERNS: The patient was a young woman with a slender physique who presented with sensorineural hearing loss detected during auditory testing.

DIAGNOSES: Auditory 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.

INTERVENTIONS: Clinical management focused on monitoring and addressing the metabolic and clinical needs associated with MDM.

OUTCOMES: The diagnosis of MDM was established, highlighting the importance of recognizing the diverse clinical manifestations, including a rare case of spontaneous abortion during pregnancy.

LESSONS: MDM 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.