ea0070aep813 | Reproductive and Developmental Endocrinology | ECE2020
Amosova Maria
, Gurova Olesya
, Poluboyarinova Irina
, Fadeyev Valentin
Introduction: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by diabetes, hypogonadism, hypothyroidism, sensorineural hearing loss, alopecia totalis, extrapyramidal findings and specific changes on ECG. This syndrome belongs to a heterogeneous group of neurodegenerative disorders and is caused by mutations of the DCAF17 gene. Treatment is symptomatic and patients are managed by multidisciplinary teams. About 90 cases were reported since 20...