PENDRED syndrome with ectopic thyroid: About a delayed diagnosis

Abstract

We describe a case of a delayed diagnosis of Pendred syndrome. The patient had a history of total thyroidectomy 13 years ago .And presented when aged 30 with a cervical abscess of ectopic thyroid. The patient had a hearing loss from the early childhood and she had a 27 year old sister who present the same history of deafness and goiter. Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by mutations in the PDS/SLC26A4 gene encoding for pendrin. Hypothyroidism in Pendred syndrome can be--although rarely--present from birth and therefore diagnosed by neonatal screening. We highlight to the general physician the classical features of this syndrome that would aid early diagnosis.