hrp0082p2-d3-341 | Diabetes (2) | ESPE2014

A Rare Cause of Obesity and Type 2 Diabetes: a Novel Alms1 Mutation in Two Siblings with Alstrom Syndrome

Hancili Suna , Guven Ayla , Apaydin Suheyla , Ardagil Aylin , Perez Diana Valverde

Introduction: Alström syndrome is a rare autosomal recessive disorder characterized by type 2 diabetes, early-onset obesity, hypogonadism, dyslipidemia, progressive retinal degeneration, sensorineural hearing loss, cardiomyopathy and renal failure.Case Report 1: A 13 years-old girl consulted because of high blood glucose (442 mg/dl). HbA1c was 8.9%, C-peptide was 4.5 g/dl, insulin was 17.5 μU/ml, insulin antibodies were negative. The parents we...