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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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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

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.

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.

Additional information

References

Pubmed ID: 23223904

Omia ID: 536

How does it work?

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2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

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