Woodhouse-Sakati Syndrome: Genotype–Phenotype Review and Case of Intra-Familial Heterogeneity

    July 2024 in “ Journal of Rare Diseases ”
    Victor Wakim, Mohammad El Dassouki, Ahlam Azar, Abeer J. Hani, Cybel Mehawej, Éliane Chouery, Marie-Jeanne Baroudi, Gerard Wakim
    TLDR Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
    Woodhouse-Sakati syndrome (WSS) is a rare genetic disorder characterized by symptoms such as hypogonadism, alopecia, diabetes mellitus, intellectual disability, and ECG abnormalities. Initially linked to a variant in the DCAF17 gene, particularly prevalent in the Arabian Peninsula and the Middle East, the syndrome's phenotypic spectrum has expanded with the discovery of new gene variants. Advances in clinical genetic testing have increased the number of diagnosed cases, enhancing our understanding of WSS's genotype and phenotype. This review highlights the geographical prevalence of genetic variations, the syndrome's diverse manifestations, and a case of intra-familial phenotypic heterogeneity, illustrating the complexity of WSS presentations.
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