Congenital hypothyroidism (CH)
Congenital hypothyroidism (CH)
General description
A genetic variant in the thyroid peroxidase (TPO) gene causes primary congenital hypothyroidism in cats. Affected cats show disproportionate dwarfism. Other signs can be goiter with bilateral enlargement of both thyroid lobes, mental dullness, constipation and delayed tooth eruption.
Order details
| Test number | 8873 |
| Abbreviation | CH |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | systemic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | TPO |
| Mutation | C-T |
| Literature | OMIA:000536-9685 |
Detailed description
A genetic variant in the thyroid peroxidase (TPO) gene causes primary congenital hypothyroidism in cats. Affected cats show disproportionate dwarfism. Some cats have obvious growth retardation while in others it is less noticeable. Other signs can be goiter with bilateral enlargement of both thyroid lobes, mental dullness, constipation and delayed tooth eruption. Congenital hypothyroidism is typically diagnosed at a young age.
Serum Total T4 concentrations are low to low-normal while TSH concentrations are abnormally high. Supplementation with L-T4 leads to an clinical improvement, as well as an increase in serum T4 and a decrease in TSH concentrations.
There is evidence that genetically affected animals with less severe manifestations of symptoms also occur.
