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H446

Congenital Dyshormonogenic Hypothyroidism with Goiter (CDHG) is a disorder affecting the thyroid gland, which may cause symptoms such as a swollen neck, retarded growth and heart murmurs.

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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 Dyshormonogenic Hypothyroidism with Goiter (CDHG) is a disorder affecting the thyroid gland, which may cause symptoms such as a swollen neck, retarded growth and heart murmurs. This variant of the disorder is found in the Shih-Tzu, and is caused by a recessive mutation to the gene SLC5A5.

Clinical features

Affected puppies present within the first few weeks of life with goiter (swelling of the thyroid gland in the throat). Further symptoms can include mild heart murmurs, cough and difficulty exercising, as well as reduced growth.

Additional information

References

Pubmed ID: 29777899

Omia ID: 2174

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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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