Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q9UIJ5 (Rec)
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Familial hypothyroidism results from both thyroidal and extrathyroidal dysfunction. Specific intrathyroidal abnormalities in thyroid hormone synthesis causing goitrous hypothyroidism are iodide trap defect, organification defect, "coupling" defect, iodoprotein defect, and dehalogenase defect. The diagnostic studies for each are outlined utilizing radioiodine(131I) studies. Other causes of cretinism include failure of the thyroid gland to respond to TSH and lack of pituitary TSH (or hypothalamic TRH). The syndrome of peripheral resistance to thyroid hormone is discussed. The diagnosis of inherited hypothyrodism rests on an adequate family history and measurement of both T4 and TSH levels which can be determined in cord blood or peripheral blood from the infant. The importance of early treatment of hypothyroidism in the neonatal period to prevent brain damage is emphasized. The rec:nt discovery of the importance of reverse T3 (RT3) in fetal thyroid metabolism is described, and the possibility of amniocentesis as an aid in prenatal diagnosis is considered. The place of intrauterine administration of thyroid hormone to the fetus at risk from hypothyroidism is uncertain at this time and requires carefully controlled studies and long-term follow-up.
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PMID:Inherited hypothyroidism. 78 70

Congenital hypothyroidism was diagnosed in related Abyssinian cats. The disease appeared to be inherited as an autosomal recessive trait with affected homozygotes showing signs of reduced growth rate, shorter stature with kitten-like features, constipation and goitre. Hypothyroidism was confirmed by demonstrating low basal serum thyroxine levels which failed to increase after intravenous administration of thyroid stimulating hormone or thyrotropic releasing hormone. The radioiodide uptake of the thyroid glands was normal but a high proportion of the accumulated radioiodide was discharged after the administration of sodium perchlorate. It is concluded that the affected cats had a primary dyshormonogenesis: an organification (peroxidase) defect.
Vet Rec 1992 Aug 15
PMID:Preliminary studies on congenital hypothyroidism in a family of Abyssinian cats. 132 5