ea0026p213 | Pituitary | ECE2011
Giestas A
, Almeida M
, Teixeira S
, Maia A
, Azevedo T
, Vaz D
, Carvalho A
, Carvalho R
Introduction: Pendred syndrome is a rare autosomal recessive disease and the classic triad is congenital sensorineural hearing impairment, goiter and impaired iodine organification with abnormal perchlorate discharge test, but hypothalamic tumors are not a feature of this syndrome.Case report: We report a case of a 32-year-old female with Pendred syndrome confirmed by genetic testing and perchlorate discharge test, with goiter, hypothyroidism treated wit...