Congenital Hypothyroidism (Tenterfield Terrier Type)
Affected Genes: TPO
Inheritance: Autosomal Recessive
Variant(canFam6):
chr17:785626: C>T
Breed: Tenterfield Terriers
General Information: Congenital Hypothyroidism (Tenterfield Terrier Type) is an inherited disorder in dogs characterized by an underactive thyroid gland present at birth. This condition results from a genetic mutation that impairs the normal production of thyroid hormones, which are crucial for regulating metabolism, growth, and development. Dogs with two copies of the associated gene mutation are predisposed to Congenital Hypothyroidism, which can manifest early in life. Symptoms include stunted growth, lethargy, weight gain, hair loss, and developmental delays. If left untreated, the condition can lead to severe health issues and significantly impact the dog's quality of life. Early diagnosis and treatment with thyroid hormone replacement therapy can help manage the condition and improve the dog's health and development.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing of the specific gene associated with Congenital Hypothyroidism (Tenterfield Terrier Type) can determine if a dog is a carrier of this condition. This disorder is inherited in an Autosomal Recessive manner, meaning that dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.
References:
Dodgson SE, Day R, and Fyfe JC. Congenital hypothyroidism with goiter in Tenterfield terriers. J Vet Intern Med. 2012 26(6):1350-1357.