Endocrine Abstracts

Pendred syndrome, an autosomal recessive disorder, is the most common syndromal form of hearing loss and involves abnormalities of the cochlea, varying degrees of sensorineural hearing loss and diffuse thyroid enlargement/goiter. We describe a case of a delayed diagnosis of Pendred syndrome. The patient is a 30 years female who had a history of total thyroidectomy 13 years ago. And presented when aged 30 with a cervical abscess of ectopic thyroid under the submaxillary gland. 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. It is important to determine an early diagnosis of Pendred syndrome; however, reducing the rate of missed diagnoses and misdiagnoses requires further investigation, thus, it is essential for clinicians to improve their understanding of Pendred syndrome. 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.

Keywords: goiter, sensorineural deafness, thyroid hormone, Pendred syndrome