Endocrine Disorders in Woodhouse-Sakati Syndrome: A Systematic Review of the Literature

The systematic review analyzed Woodhouse-Sakati syndrome (WSS), a rare genetic disorder caused by mutations in the DCAF17 gene, characterized by a range of symptoms including hypogonadism, alopecia, and endocrine abnormalities. The review included data from 72 patients across 29 families, with 39 having undergone genetic testing. It was found that WSS consistently involves hypogonadism, reduced IGF1, and frontotemporal alopecia beginning in childhood. Other common symptoms were intellectual disabilities (87% of patients), bilateral deafness (76%), cervicofacial dystonia and limb pain (42%, increasing to 89% after 25 years), and diabetes (66%, increasing to 96% after 25 years). The review highlighted the need for considering WSS in differential diagnoses, especially in consanguineous families, to prevent misdiagnosis and emphasized the importance of a multidisciplinary and personalized approach to treatment. Further research into the pathophysiology of WSS, including animal models, was recommended.