Pendred syndrome with retrosternal goitre- a rare case report

Area of Science:

• Genetics
• Endocrinology
• Otolaryngology

Background:

• Pendred syndrome is an autosomal recessive disorder.
• Characterized by congenital sensorineural deafness and goiter.
• Caused by mutations in the PDS gene, affecting iodide transport in the thyroid.

Purpose of the Study:

• To report a clinical case of Pendred syndrome.
• To highlight the presentation of retrosternal goiter in this condition.
• To contribute to the understanding of Pendred syndrome's clinical spectrum.

Main Methods:

• Clinical case presentation.
• Review of patient's medical history.
• Physical examination and diagnostic workup for goiter and hearing loss.

Main Results:

• The patient presented with Pendred syndrome.
• A retrosternal goiter was identified as a key feature.
• The underlying genetic defect affecting iodide organification was implicated.

Conclusions:

• Pendred syndrome requires comprehensive evaluation for both thyroid and auditory dysfunction.
• Retrosternal goiter can be a significant manifestation.
• Genetic factors play a crucial role in the pathogenesis.