Congenital Hypothyroidism with Goiter (CHG) – Spanish Water Dog
Kodas: H416
Short description
Congenital Hypothyroidism with Goiter (CHG), sometimes just called Hypothyroidism, is a deficiency of the thyroid gland, which can cause growth retardation and lethargy.
General information
Congenital Hypothyroidism with Goiter (CHG), sometimes just called Hypothyroidism, is a deficiency of the thyroid gland, which can cause growth retardation and lethargy. This variant of the disease, found in the Spanish Water Dog, is caused by a recessive mutation to the TPO gene. Similar variants occur in the Rat Terrier and Toy Fox Terrier, the Tenterfield Terrier, and the French Bulldog.
Specifications
| Breeds | |
|---|---|
| Gene | TPO |
| Chromosome | 17 |
| Mutation | c.39_40insG |
| Organ | Endocrine glands |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | CHG |
Clinical features
Affected puppies develop more slowly than their littermates, moving less, nursing poorly and opening their eyes later. They also develop goiters (progressively-enlarging swellings on the underside of the neck). Skeletal abnormalities and deafness can result. CHG can be partially treated through oral thyroid hormone replacement, which can increase growth rate, activity and alertness.
References
Pubmed ID: 23223904
Year published: 2013
Omia ID: 536
Omia variant ID:
Turnaround information
- 10 working days