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Pendred syndrome.

Joaquin Lado Abeal1

  • 1a UETeM Department of Medicine, School of Medicine, University of Santiago de Compostela, C/ San Francisco sn. 15705, Santiago de Compostela, Spain. joaquin.lado@usc.es.

Expert Review of Endocrinology & Metabolism
|October 7, 2018
PubMed
Summary
This summary is machine-generated.

Pendred syndrome (PDS) is a genetic disorder causing hearing loss and goiter, primarily due to SLC26A4 gene mutations affecting pendrin function. Management involves thyroid hormone replacement and hearing support.

Keywords:
FOXI1 genePendred syndromeSCL26A4 geneenlargement of vestibular aqueductgoiterhearing losspendrinperchlorate discharge test

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Area of Science:

  • Genetics
  • Endocrinology
  • Otolaryngology

Background:

  • Pendred syndrome (PDS) is an autosomal recessive disorder.
  • Characterized by sensorineural hearing loss and goiter.
  • Mainly caused by mutations in the SLC26A4 gene (encoding pendrin) or FOXI1 gene.

Purpose of the Study:

  • To summarize the clinical characteristics, genetic basis, and management of Pendred syndrome.
  • To highlight the role of the SLC26A4 gene and pendrin transporter in PDS.
  • To outline current treatment strategies for PDS patients.

Main Methods:

  • Review of clinical and genetic findings in Pendred syndrome.
  • Analysis of the function of the SLC26A4 gene product, pendrin.
  • Description of common temporal bone abnormalities associated with PDS.

Main Results:

  • PDS presents with severe-to-profound bilateral hearing loss, often with temporal bone abnormalities like enlarged vestibular aqueduct.
  • Goiter development is common, influenced by iodide intake and mutation effects on pendrin.
  • Hypothyroidism is a frequent comorbidity requiring management.

Conclusions:

  • Effective management of Pendred syndrome involves thyroid hormone replacement for hypothyroidism and goiter control.
  • Hearing aids and educational support are crucial for affected individuals.
  • Understanding pendrin function is key to managing PDS and related disorders.