Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings

Abstract

We present here at 16 years old a Saudi girl with alopecia which noted since birth and delayed puberty and short stature, dyslipidemia, diabetes and hypothyroidism. Family history was positive for similar complaints. Genetic study shows a mutation at DCAF17 which is known a common founder mutation confirming diagnosis of Woodhouse-Sakati Syndrome. This patient has many unreported findings of hepatic hemangioma, with Hepatomegaly, high indirect bilirubin, high uric acid, focal segmental Glomerulonephritis and low growth hormone level. Presentation of this syndrome may overlap with other important differential diagnosis like autoimmune polyendocrine syndrome, Alopecia-progressive neurological defect (ANE syndrome), and Turner and Mitochondrial disease. In such presentation, the presence of dysmorphic features and low intelligence quotient (IQ) scores, should alert the physician to look for WSS as a possible diagnosis.