Association of recessive c.430G>A (p.(Gly144Arg)) thyroid peroxidase variant with primary congenital hypothyroidism in cats.

Mario Van PouckeEmilie Van RenterghemMark E Peterson Marit F van den Berg Emmelie StockLuc J PeelmanSylvie Daminet

Published in: Journal of veterinary internal medicine (2022)

Disproportionate dwarfism, abnormally high TSH and abnormally low to low-normal T4 concentrations are diagnostic for CH in cats. All cases had dyshormonogenesis demonstrated by thyroid scintigraphy. This novel TPO missense variant (not described in humans) causes CH in cats and awareness of it can assist in diagnosis and breeding.

Keyphrases

intellectual disability
room temperature
hydrogen peroxide
pet ct
autism spectrum disorder
nitric oxide