Woodhouse-Sakati Syndrome With Unique Unreported Previous Findings

    July 2021 in “ Scholars Journal of Medical Case Reports ”
    Amer Omar Alali, Mohammed Soeid, Ahmed E. Shamakhi, Mosa Hakami, Mohammed Qasem Masmali, Omar E Masmali, Amro Alomar, Mohammed A fagehi, Mohammad A. Razzaque, Badi Alenazi, Shemah M. Hakami, Nasir A.M. Al-Jurayyan
    TLDR Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
    A 16-year-old Saudi girl with alopecia since birth, delayed puberty, short stature, dyslipidemia, diabetes, and hypothyroidism was diagnosed with Woodhouse-Sakati Syndrome (WSS) due to a mutation at DCAF17. Her case was notable for previously unreported findings such as hepatic hemangioma, hepatomegaly, high indirect bilirubin, high uric acid, focal segmental glomerulonephritis, and low growth hormone levels. The presentation of WSS could overlap with other conditions like autoimmune polyendocrine syndrome and Turner syndrome. Dysmorphic features and low IQ should prompt consideration of WSS in differential diagnosis.
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