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Misdiagnosis of Hidden Causes of Inborn errors of thyroid hormone synthesis related to hypothyroidism

Underlying conditions list:

The list of possible underlying conditions mentioned in various sources for Inborn errors of thyroid hormone synthesis related to hypothyroidism includes:

  • Dysgenesis of the thyroid gland
  • TSH unresponsiveness (i.e., TSH receptor abnormalities)
  • Impaired ability to uptake iodide
  • Peroxidase, or organification, defect (i.e., inability to convert iodide to iodine)
  • Pendred syndrome, a familial organification defect associated with congenital deafness Thyroglobulin defect (i.e., inability to form or degrade thyroglobulin)
  • Deiodinase defect
  • Thyroid hormone resistance (i.e., thyroid hormone receptor abnormalities)
  • Maternal autoimmune disease (transient or permanent)
  • Iatrogenic causes - Maternal use of thioamides, iodine excess, radioactive iodine therapy TSH or thyrotropin-releasing hormone (TRH) deficiencies

About underlying conditions:

With a diagnosis of Inborn errors of thyroid hormone synthesis related to hypothyroidism, it is important to consider whether there is an underlying condition causing Inborn errors of thyroid hormone synthesis related to hypothyroidism. These are other medical conditions that may possibly cause Inborn errors of thyroid hormone synthesis related to hypothyroidism. For general information on this form of misdiagnosis, see Underlying Condition Misdiagnosis or Overview of Misdiagnosis.

 

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