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PATELLAR LUXATION
LEGG-CALVE-PERTHES
CONGENITAL HYPOTHYROIDISM WITH GOITER (CHG)



CONGENITAL HYPOTHYROIDISM WITH GOITER (CHG)
Hypothyroidism in the neonatal period results in dwarfism and severe mental retardation. Therefore, it is imperative that congenital hypothyroidism (CH) be diagnosed and treatment instituted early in life. Inherited CH may be due to defects of the hypothalamus, pituitary, or thyroid glands. We are presently investigating two forms of CH in dogs, both of which are recessive traits resulting in growth and behavioral abnormalities.

One is a signal transduction defect of thyrotrophs, the pituitary cells responsible for production of thyroid stimulating hormone. Investigation has ruled out involvement of all loci known to cause a similar disorder in humans or mice, and a genome scan for linkage is under way.

The second is severe CH with goiter (CHG) apparent by a week of life due to thyroid follicular cell failure to utilize iodide in production of thyroid hormones. Biochemical analysis suggested involvement of the thyroid peroxidase gene, a well-described origin of CH in humans, and we found a nonsense mutation in this gene that is the basis of a CHG carrier test available to Toy Fox Terrier breeders. Subsequently, the same mutation was discovered to cause CHG in rat terriers, so the same carrier test is applicable to both breeds.

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