Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome?

J Clin Res Pediatr Endocrinol. 2010;2(2):81-4. doi: 10.4274/jcrpe.v2i2.81. Epub 2010 May 6.

Abstract

Pendred syndrome (PDS) is an autosomal recessive disorder characterized by congenital deafness, goiter and iodide organification defect. Presence of inner ear malformations is essential for the clinical diagnosis. Most individuals with PDS are clinically and biochemically euthyroid. Mutations in the PDS gene encoding pendrin protein have been shown to be associated with PDS. It has been recently demonstrated that some families with features of PDS do not have the inner ear malformations and mutations in the PDS gene. This condition has been named as "pseudo-Pendred syndrome" (pseudo-PDS), and has been hypothesized to be of autoimmune origin. Here we report four siblings who have goiter, severe hypothyroidism, a positive perchlorate discharge test and sensorineural deafness, but not the inner ear abnormality which is diagnostic for PDS. We suggest that thyroid peroxidase (TPO) gene should be analyzed in pseudo-PDS patients with congenital goitrous hypothyroidism and deafness.

Keywords: Pendred syndrome; congenital hypothyroidism; pseudo−Pendred syndrome; thyroid peroxidase defect.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / metabolism
  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Child
  • Congenital Hypothyroidism / pathology*
  • Deafness / pathology*
  • Female
  • Goiter / congenital
  • Goiter, Nodular / genetics
  • Goiter, Nodular / metabolism
  • Goiter, Nodular / pathology
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / metabolism
  • Hearing Loss, Sensorineural / pathology
  • Humans
  • Iodide Peroxidase / genetics
  • Iodide Peroxidase / metabolism
  • Iodides / metabolism*
  • Male
  • Membrane Transport Proteins / genetics
  • Mutation
  • Siblings
  • Sulfate Transporters
  • Syndrome

Substances

  • Iodides
  • Membrane Transport Proteins
  • SLC26A4 protein, human
  • Sulfate Transporters
  • Iodide Peroxidase

Supplementary concepts

  • Pendred syndrome