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Congenital Hypothyroidism
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Congenital Hypothyroidism
OMIA
536
Gene Name
TPO
Mutation
c.1777C>T
Mutation 2
c.39insG
Mutation 3
c.367C>T
Mutation 4
c.331C>T
Test Type
Genetic Disease/Disorder
Details
Reported signs include growth abnormalites (dwarfism), delayed tooth eruption, delayed opening of eyes and ear canals, hair/coat abnormalites, thickened skin, lethargy, unresponsiveness, failure to suckle, and goiter. Age of onset is early (less than one week of age) for congentical hypothyroidism. Signs of disease, and disease onset can vary by breed/type.
Details 2
Signs include growth retardation (dwarfism), epiphyseal dysplasia in the vertebrae and limbs, delayed dental eruption, delayed opening of eyes and ear canals, delayed haircoat maturation, thickened subcutis, lethargy, unresponsiveness, failure to suckle. Age of onset is early (less than one week of age) for congentical hypothyroidism. Goiter, extremely low T4, and increased TSH are reported signs in Toy Fox Terriers, Rat Terriers, Tenterfield Terriers, and Spanish Water Dogs. (from OMIA, 2018)
Published
Boretti, F.S., Breyer-Haube, I., Kaspers, B., Reusch, C.E. : [Clinical, hematological, biochemical and endocrinological aspects of 32 dogs with hypothyroidism] Schweizer Archiv fur Tierheilkunde 145:149-56, 158-9, 2003. Pubmed reference: 12741092.
Published 2
Fyfe, J.C., Kampschmidt, K., Dang, V., Poteet, B.A., He, Q., Lowrie, C., Graham, P.A., Fetro, V.M. : Congenital hypothyroidism with goiter in toy fox terriers Journal of Veterinary Internal Medicine 17:50-7, 2003. Pubmed reference: 12564727./
Published 3
Pettigrew, R., Fyfe, J.C., Gregory, B.L., Lipsitz, D., Delahunta, A., Summers, B.A., Shelton, G.D. : CNS hypomyelination in Rat Terrier dogs with congenital goiter and a mutation in the thyroid peroxidase gene. Vet Pathol 44:50-6, 2007. Pubmed reference: 17197623. DOI: 10.1354/vp.44-1-50.
Published 4
Bianchi, M., Dahlgren, S., Massey, J., Dietschi, E., Kierczak, M., Lund-Ziener, M., Sundberg, K., Thoresen, S.I., Kämpe, O., Andersson, G., Ollier, W.E., Hedhammar, Å., Leeb, T., Lindblad-Toh, K., Kennedy, L.J., Lingaas, F., Rosengren Pielberg, G. : A Multi-Breed Genome-Wide Association Analysis for Canine Hypothyroidism Identifies a Shared Major Risk Locus on CFA12. PLoS One 10:e0134720, 2015. Pubmed reference: 26261983. DOI: 10.1371/journal.pone.0134720.
Body/System/Process
Endocrine
OMIA Url
Inheritance
AR
