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Congenital Hypothyroidism with Goiter (CHG), sometimes just called Hypothyroidism, is a deficiency of the thyroid gland, which can cause growth retardation and lethargy.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 17 |
| Mutation | c.2242 + 2T>C |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | CHG |
Informations générales
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 French Bulldog, 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 Spanish Water Dog
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: 26478542
Year published: 2015
Omia ID: 536
Omia variant ID: 407