Searchable abstracts of presentations at key conferences in endocrinology

ea0056p390 | Diabetes (to include epidemiology, pathophysiology) | ECE2018

Kinky and sparse hair as an associated finding inmaternally inherited diabetes and deafness

Karaguzel Gulay , Cebi Alper Han , Sag Elif

Background: Maternally inherited diabetes and deafness (MIDD) is a rare form of diabetes due to defects in mitochondrial DNA (mtDNA). Maternal transmission of diabetes and neurosensorial deafness are the main clinical features of MIDD followed by other mitochondrial disorders, myopathies, and macular dystrophy. 3243 A>G is the mutation most frequently associated with this condition, but also other mtDNA variants have been linked with MIDD. We describe the case presenting w...