Congenital hypothyroidism with goiter (CHG)

General description

In affected pups a delay in growth occurs, which becomes obvious at about two weeks of age comparing with healthy pups. Opening of the eyes and ear canals is delayed and the thyroid glands are enlarged (goiter). Bones do not lenghten appropriately causing irreversible dwarfism. Early diagnosis and daily medication with thyroid hormones prevent most of the symptoms, otherwise affected dogs have a very short lifespan.

Breeds

Fox Terrier, French Bulldog, Rat Terrier, Spanish Water Dog, Tenterfield Terrier, Toy Fox Terrier

Detailed description

Hypothyroidism stands for all different kind of thyroid gland hypo-function, independent of the origin. In Spanish Water Dogs sub-function of the thyroid gland can originate from a genetic source. In affected pups a delay in growth occurs, which becomes obvious at the time when normal pups from the same litter experience a growth spurt at about two weeks of age. Some pups suddenly die at this time. Opening of the eyes and the ear channels is substantially delayed and the thyroid glands (goiter) enlarge as paired swellings on the underside of the neck. Bones do not lengthen appropriately causing irreversible dwarfism. Early diagnosis opens the possibility to circumvent most of the symptoms by a daily medication with thyroid hormones for the rest of the dogs life. Otherwise, affected dogs have a very short lifespan and normally die as puppies. The causative mutation has been found by John C. Fyfe and his group at Michigan State University.

Congenital Hypothyroidism with goiter (CHG) - Fox, Rat Terrier

The symptoms described in this breed can be found in the text above.

Order details
Test number8434
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexsystemic
Inheritanceautosomal recessive
Age of onset2 weeks
Causalitycausally
GeneTPO
MutationC-T
LiteratureOMIA:000536-9615

Congenital Hypothyroidism with goiter (CHG) - French Bulldog

The symptoms described in this breed can be found in the text above.

Order details
Test number8434
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexsystemic
Inheritanceautosomal recessive
Age of onset2 weeks
Causalitycausally
GeneTPO
MutationT-C
LiteratureOMIA:000536-9615

Congenital Hypothyroidism with goiter (CHG) - Spanish Water Dog

The symptoms described in this breed can be found in the text above.

Order details
Test number8434
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexsystemic
Inheritanceautosomal recessive
Age of onset2 weeks
Causalitycausally
GeneTPO
MutationINS
LiteratureOMIA:000536-9615

Congenital Hypothyroidism with goiter (CHG) - Tenterfield Terrier

The symptoms described in this breed can be found in the text above.

Order details
Test number8434
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexsystemic
Inheritanceautosomal recessive
Age of onset2 weeks
Causalitycausally
GeneTPO
MutationC-T
LiteratureOMIA:000536-9615