Woodhouse-Sakati Syndrome: A Case Study of Three Saudi Sisters

Woodhouse-Sakati syndrome (WSS) is a rare genetic disorder caused by mutations in the DCAF17 gene, leading to symptoms such as diabetes mellitus, alopecia, hypogonadism, intellectual disability, and progressive extrapyramidal signs. The document discusses a case involving 3 Saudi sisters aged 18, 22, and 25, born to consanguineous parents, who exhibited typical features of WSS. They had normal early development but experienced intellectual difficulties and poor academic performance. At puberty, they did not develop secondary sexual characteristics and suffered from primary amenorrhea. Additionally, they presented with atypical gynecological anomalies not commonly associated with WSS.