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Congenital Hypothyroidism with Goiter (Tenterfield Terrier Type)

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Test Overview:

Congenital hypothyroidism with goiter (CHG) is an inherited disease affecting dogs. Affected dogs lack an Enzyme that is important in the production of thyroid hormone which is necessary for the normal development and metabolism of dogs. At 3-8 weeks of age, dogs with CHG are generally noted to have reduced movement and to be small when compared to their littermates. Enlarged thyroid glands (goiter) are often noticeable as a swelling on the neck. Affected puppies exhibit dwarfism with short legs, large heads, and fluffy hair coats absent of guard hairs. In addition, affected dogs develop a wide variety of neurological and neuromuscular deficits. The condition progresses to failure to thrive and death. Most symptoms can be prevented or will regress if the condition is diagnosed early and affected dogs are treated with thyroid hormone medication. However, the thyroid glands may continue to enlarge over time despite treatment and can eventually obstruct the dog’s airway.

Category:

Endocrine - Associated with hormone-producing organs

Gene:

Thyroid peroxidase (TPO) on chromosome 17

Variant Detected:

Base Substitution c.1777C>T p.Arg593Trp

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Dodgson, SE, et al. Congenital Hypothyroidism with Goiter in Tenterfield Terriers. (2012) J Vet Intern Med, 26;1350-1357

Associated Breed(s):

Mixed Breed, Tenterfield Terrier ,

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