[A case of Pendred's syndrome]

Area of Science:

• Endocrinology
• Genetics
• Otolaryngology

Background:

• Pendred's syndrome is a rare genetic disorder.
• It is characterized by congenital sensorineural hearing loss and goiter.
• The underlying cause is a defect in thyroid peroxidase, crucial for hormone synthesis.

Observation:

• This report details an extremely rare instance of Pendred's syndrome.
• The patient presented with congenital deaf-mutism and sporadic goiter.
• The goiter resulted from peroxidase insufficiency.

Findings:

• The case presented unique features not typically managed conservatively.
• Surgical intervention was deemed necessary, diverging from standard treatment protocols.
• Peroxidase insufficiency was confirmed as the etiology for the goiter.

Implications:

• This case challenges the conventional conservative approach to Pendred's syndrome.
• It underscores the importance of individualized treatment strategies based on specific clinical features.
• Further research into surgical indications for Pendred's syndrome may be warranted.