Categories: Growth / size / body region phene , Homeostasis / metabolism phene , Endocrine / exocrine gland phene (incl mammary gland)

Possible human homologues (MIM numbers): 188450 (gene) , 274700 (trait)

Cross-species summary: Please note that this entry is partially overlapping with OMIA:000424 Goitre, familial.

Congenital hypothyroidism (CH) is an endocrine disorder that may cause a range of clinical signs depending on the primary defect, which affects the production of thyroid hormones. Hallmark signs of CH are skeletal abnormalities, resulting in disproportionate dwarfism and developmental delay. Goiter may or may not be present. CH may be the result of a deficiency of, or unresponsiveness to, thyrotropin-releasing hormone (TRH) or thyroid-stimulating hormone (TSH), thyroid dysgenesis, dyshormonogenesis, and iodine deficiency.
CH due to thyroid dyshormonogenesis is a heterogenic disorder that may be caused by loss-of-function variants in any of the genes involved in the individual steps of the thyroid hormone biosynthesis pathway. Eight genes are known to be key players in this pathway and associated with thyroid dyshormonogenesis in humans: SLC5A5 encoding solute carrier family 5 member 5 (also called sodium iodide symporter), SLC26A4 encoding solute carrier family 26 member 4, SLC26A7 encoding solute carrier family 26 member 7, TG encoding thyroglobulin, TPO encoding thyroid peroxidase, DUOX2 encoding dual oxidase 2, DUOXA2 encoding dual oxidase maturation factor 2, and IYD encoding iodotyrosine deiodinase.

Species in which this phene is found:
dog (Canis lupus familiaris)