TLDR The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
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.
31 citations,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
14 citations,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
31 citations,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
1 citations,
August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
7 citations,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
4 citations,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
