Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep394 | Clinical case reports - Thyroid/Others | ECE2017

Endocrine manifestations of Woodhouse-Sakati Syndrome – a Portuguese case

Oliveira Diana , Paiva Sandra , Louro Pedro , Macario M Carmo , Duraes Joao , Martins Diana , Ventura Mara , Lages Adriana , Cunha Nelson , Carrilho Francisco

Introduction: Woodhouse-Sakati Syndrome (WSS) is a very rare autossomic recessive disorder caused by mutations in DCAF17 gene that primarily affects the endocrine and the nervous systems. It is associated with hypogonadism, diabetes mellitus, hypothyroidism, sensorineural hearing loss, alopecia and extrapyramidal findings. Treatment is symptomatic and managed by multidisciplinary teams. Less than 80 cases are reported to date.Case repor...