Congenital Hypothyroidism with Goiter

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.

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

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.

Talk to your vet about your dog’s congenital hypothyroidism result, as it may influence how they monitor your dog’s thyroid function, growth, and development.

Schedule regular checkups and bloodwork to check thyroid hormone levels and make sure your dog is growing normally.

Contact your vet if you notice signs such as sluggishness, weight gain, hair loss, or changes in coat quality, as early treatment can help your dog stay healthy and active.

This variant was first described in the French Bulldog.

Penetrance: 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

TPO Intron 13

Inheritance type

recessive

Clinical category

Endocrine

Citations

1. Major et al 2015

• French Bulldog