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Congenital Hypothyroidism

General

Disease Name
Congenital Hypothyroidism
Mutation
c.1777C>T
Mutation 2
c.39insG
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.
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