biostudies-literatureUnknown36(5)Van Poucke M<h4>Background</h4>Primary congenital hypothyroidism (CH) is a rare endocrine disorder in cats with a largely unknown genetic cause.<h4>Objectives</h4>Describe the clinical presentation of CH in 11 affected cats and identify the causal genetic variant.<h4>Animals</h4>Eleven CH-cats from 10 unrelated families, 11 CH-free family members, 21 unrelated CH-free cats, and 155 unrelated nondiagnosed cats from different breeds.<h4>Methods</h4>Case control study of CH-cats and their siblings (2019-2021). Diagnosis was based on low to low-normal serum thyroxine (T4) concentrations, high thyroid-stimulating hormone (TSH) concentrations and clinical signs compatible with CH. We identified the causal variant using Sanger sequencing, genotyping via PCR-RFLP and variant interpretation using ACMG/AMP guidJournal of veterinary internal medicine1597-1606https://www.ebi.ac.uk/biostudies/studies/S-EPMC9511070biostudies-literatureAssociation of recessive c.430G>A (p.(Gly144Arg)) thyroid peroxidase variant with primary congenital hypothyroidism in cats.PMC9511070van den Berg MFPeelman LJDaminet SStock EVan Renterghem EVan Poucke MPeterson MEfalseAssociation of recessive c.430G>A (p.(Gly144Arg)) thyroid peroxidase variant with primary congenital hypothyroidism in cats.<h4>Background</h4>Primary congenital hypothyroidism (CH) is a rare endocrine disorder in cats with a largely unknown genetic cause.<h4>Objectives</h4>Describe the clinical presentation of CH in 11 affected cats and identify the causal genetic variant.<h4>Animals</h4>Eleven CH-cats from 10 unrelated families, 11 CH-free family members, 21 unrelated CH-free cats, and 155 unrelated nondiagnosed cats from different breeds.<h4>Methods</h4>Case control study of CH-cats and their siblings (2019-2021). Diagnosis was based on low to low-normal serum thyroxine (T4) concentrations, high thyroid-stimulating hormone (TSH) concentrations and clinical signs compatible with CH. We identified the causal variant using Sanger sequencing, genotyping via PCR-RFLP and variant interpretation using ACMG/AMP guid2022-01-01T00:00:00Z2022 Sep2026-05-31T15:57:13.332Z2025-04-04T12:45:43.671ZS-EPMC95110703605418210.1111/jvim.16524