hrp0095p2-59 | Diabetes and Insulin | ESPE2022

First case of Diabetes Mellitus Caused by compound heterozygous changes in the WFS1 and PTF1A Genes from Kazakhstan

Aralbayeva Dariga , Bolatbek Kassiyet , Berikkan Aigerim , Ten Svetlana , Bhangoo Amrit , Nurbekova Akmaral

Background: We report the first case of Wolfram syndrome with heterozygous polymorphisms of WFS1 and PTF1A genes.Case description: 16 years-old girl presented with diabetes mellitus at 12 years of age with HbA1c of 8.4 %. The IA-2, Islet cell, Insulin antibodies (Ab) were negative. GAD Ab were positive 26 U/ml (nl< 4). C-peptide level was normal 1.33 ng/ml (1.1-4.4 ng/ml) even after 4 years of diagnosis. She was initi...