ea0049ep394 | Clinical case reports - Thyroid/Others | ECE2017
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...