Congenital Hypothyroidism with Goiter (CHG) – Rat and Toy Fox Terrier
Kodas: H488
Short description
Congenital hypothyroidism with goiter is observed to segregate as a simple autosomal recessive trait in Toy Fox Terriers (TFTs).
General information
Congenital hypothyroidism with goiter is observed to segregate as a simple autosomal recessive trait in Toy Fox Terriers (TFTs).
Neonatal affected pups show inactive behaviour, abnormal hair coat, delayed eye opening and stenotic ear canals. Palpable ventrolateral cervical swellings can be present by 1 week of age.
Rat Terriers are believed to have acquired more recently, as a result of interbreeding with Toy Fox Terriers.
Specifications
| Breeds | |
|---|---|
| Gene | TPO |
| Chromosome | 17 |
| Mutation | c.331C>T |
| Organ | Endocrine glands |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | CHG |
Clinical features
Typical clinical findings include growth retardation (disproportionate dwarfism) because of epiphyseal dysplasia, delay in maturation changes such as eyeopening and tooth eruption, abnormal hair and skin texture, mental retardation, and lethargy.
Additional information
Most hypothyroidism is not congenital. The disorder is lethal unless diagnosed and treated early.
References
Pubmed ID: 12564727
Year published: 2003
Omia ID: 536
Omia variant ID:
Turnaround information
- 10 working days