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H854

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

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

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

Omia ID: 536

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