hrp0089p2-p103 | Diabetes & Insulin P2 | ESPE2018

Donohue Syndrome with Hypertrophic Cardiomyopathy

Buluş Derya , Doğer Esra , Sarıcı Dilek , Kayalı Şeyma , Uğurlu Aylin , Kalkan Gokhan

Donohue Syndrome is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor gene. It presents severe insulin resistance, fasting hypoglycemia, post-prandial hyperglycemia, intrauterine and postnatal growth retardation, dysmorphic features, hypertrichosis. The diagnosis of Donohue syndrome was based on the clinical characteristics, laboratory evaluation and determination of the INSR mutation. We report a Turkish female patient with genetically ...