Thyroid dyshormonogenesis

Indian Pediatr. 2005 Dec;42(12):1233-5.


Dyshormonogenesis is an uncommon cause of congenital hypothyroidism. The most common abnormality is absent or insufficient thyroid peroxidase enzyme. Perchlorate discharge test can be used to diagnose thyroid peroxidase deficiency. We report three siblings with hypothyroidism due to thyroid dyshormonogenesis. Early institution of therapy in these patients can prevent mental retardation and other features of hypothyroidism.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Congenital Hypothyroidism* / diagnostic imaging
  • Congenital Hypothyroidism* / enzymology
  • Congenital Hypothyroidism* / genetics
  • Female
  • Humans
  • Iodide Peroxidase / deficiency*
  • Male
  • Metabolism, Inborn Errors* / diagnostic imaging
  • Metabolism, Inborn Errors* / enzymology
  • Metabolism, Inborn Errors* / genetics
  • Radionuclide Imaging


  • Iodide Peroxidase