hrp0092p2-63 | Diabetes and Insulin | ESPE2019

A Rare Case of Syndromic Diabetes due to an INSR Pathogenic Variant

Tayeb Tara , Amaratunga Shenali , Kucerová Petra , Pruhová Štepanka , Lebl Jan

Introduction: The main type of diabetes seen in pediatric clinical practice is type 1 diabetes. Monogenic diabetes and syndromic diabetes are rare, but can be more common in areas where consanguinity is high.A 12-year-old girl born to consanguineous parents who are first cousins, was referred after being diagnosed with diabetes and severe diabetic ketoacidosis. In addition, she had hypertrichosis, coarse facial features, acanthosis nigri...