First Case of Waardenburg Syndrome Type II with Diabetes Mellitus

A 12-year-old Korean boy with congenital deafness presented to our pediatric department due to a 6-month history of polydipsia, polyuria, and 8-kg weight loss. His blood glucose level was 520 mg/dL and HbA1c was 14.1%. He had bilateral blue irises, hyper-pigmented macules over his whole body, depigmented skin color, gray hair and no dystopia canthorum. There was no mutation in the PAX3 gene. To our knowledge, this is the first case of Waardenburg Syndrome (WS) with Diabetes Mellitus (DM). His associated DM may be incidental, or there might be a gene mutation that shares predisposition to both WS and DM.