Woodhouse-Sakati syndrome

Woodhouse-Sakati syndrome (WSS), also known as hypogonadism-alopecia-diabetes mellitus-intellectual disability-extrapyramidal syndrome, is a rare multisystem disorder caused by mutations in the DCAF17 gene (previously known as C2orf37) located on chromosome 2q31.1. The condition was first described in 1983 and is most frequently reported in individuals of Saudi Arabian and Middle Eastern descent, though cases have been identified in other populations worldwide. The syndrome affects multiple body systems including the endocrine, neurological, and integumentary systems. Key clinical features include hypogonadism (resulting in delayed or absent puberty), progressive alopecia (hair loss typically beginning in childhood or adolescence), diabetes mellitus, intellectual disability of variable severity, and progressive extrapyramidal movement abnormalities such as dystonia and chorea. Additional features may include sensorineural hearing loss, electrocardiographic abnormalities (particularly T-wave changes), and dental anomalies. The endocrine manifestations are particularly prominent, with hypogonadotropic hypogonadism being one of the most consistent findings, leading to incomplete sexual development. There is currently no cure for Woodhouse-Sakati syndrome, and management is supportive and symptom-based. Treatment typically involves hormone replacement therapy for hypogonadism, insulin or oral hypoglycemic agents for diabetes mellitus, and medications to manage extrapyramidal symptoms such as dystonia. Regular monitoring by a multidisciplinary team including endocrinologists, neurologists, and dermatologists is recommended. Genetic counseling is important for affected families given the autosomal recessive inheritance pattern.

Common questions about Woodhouse-Sakati syndrome