Endocrine Abstracts

Maternally inherited diabetes and deafness (MIDD) is rare subtype and monogenic form of adult onset diabetes caused from point mutation at position 3243 of mitochondrial DNA. The name indicates the main features of disease including diabetes and sensorineural hearing loss. About one percent of people with diabetes can have MIDD but the diagnosis can be challenging and needs high clinical suspicion on basis of family history, clinical features of diabetes, deafness and unusual neurological symptoms. We herein report an unusual presentation of MIDD in a 39 year female who presented with gestational diabetes during her 5th pregnancy. On high clinical suspicion genetic testing was done showing mutation in mitochondrial DNA (3243 A > G). She was treated with insulin during pregnancy and given Metformin and Gliclazide post-natal. After establishing final diagnosis of MIDD, her Metformin was stopped due to risk of lactic acidosis. She was continued on other oral hypoglycaemic agents with dietary changes and offered genetic counselling. MIDD is associated with co-morbidities and unique management issues. There is no definite evidence of efficacy for any specific therapy. Oral hypoglycemics can be helpful initially but patients may require insulin therapy within 2 years after diagnosis. The effectiveness of other treatment options described in literature including Co enzyme Q and thiamine requires further study.

Keywords: maternally inherited diabetes and deafness, mitochondrial DNA, mutation, gestational diabetes.