Congenital hypothyroidism is an underactive thyroid caused by a mutation in the TPO (thyroid peroxidase) gene. Affected cats show dysproportional dwarfism. These include a large head with a shortened lower jaw and ears, legs that are too short, and, in some cases, a hunched back (kyphosis). In addition, delayed tooth eruption and neurological deficits may be observed. Other possible and rather nonspecific symptoms include loss of appetite, obesity, constipation, lethargy, or a persistent kitten coat.
Congenital hypothyroidism is usually diagnosed at a young age.
European Shorthair
| Test number | Included only in LABOGeneticsXXL – Cat |
| Inheritance | autosomal-recessive |
| Gene | TPO |
| Mutation | G-A |
| Literature | OMIA:000536-9685 |