Congenital Hypothyroidism with Goiter


Congenital Hypothyroidism is due to abnormal development of the thyroid gland or improper thyroid hormone synthesis. This is a medically manageable condition. This variant in the thyroid peroxidase (TPO) gene causes a failure of the biochemical process with iodide in the thyroid gland and the presence of a goiter.

  • Signs and symptoms

    Affected dogs may have mental dullness, disproportionate dwarfism, abnormal haircoat and skin, a large protruding tongue, and a lump on their throat region (goiter).

    Signs first develop in puppyhood and continue throughout their lives if untreated.

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  • Diagnosis

    Genetic and laboratory testing, along with clinical signs, are used to diagnose this disease.

  • Treatment

    Other forms of Congenital Hypothyroidism with Goiter (CHG) can be lethal if not diagnosed and treated in a timely manner. The reported case of CHG due to this TPO variant had more mild symptoms than those due to previously reported variants. Affected dogs can be treated with lifelong hormone replacement.

  • What to do if your dog is at risk


    • Early diagnosis, consistent treatment, and regular blood work are key to managing this condition well.

  • Genetic Information

    This variant was first described in the French Bulldog.

    This variant is inherited in an autosomal recessive manner, meaning a dog must have two copies of the variant to be affected by it.

    Gene names:

    TPO Intron 13 ‐ chr

    Inheritance type:


  • Breeds affected

    This health condition affects the following breeds

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