title: Molecular genetics of congenital hypothyroidism.
abstract: Congenital thyroid gland defects - resulting in reduced production of the hormones triiodothyronine (T3) and thyroxine (T4) - can be a consequence of either reduced or absent thyroid tissue (thyroid dysgenesis) or, less frequently, of impairment in the biochemical mechanisms responsible for hormone biosynthesis (thyroid dyshormonogenesis). Recent studies have revealed how mutations in the genes encoding either transcription factors or the thyroid stimulating hormone receptor cause, in humans or in mouse models, thyroid dysgenesis. This demonstrates, for the first time, the heritability of this condition. New genes responsible for thyroid dyshormonogenesis have also been discovered.
authors.affiliation: Stazione Zoologica Anton Dohrn Villa Comunale, 80121, Napoli, Italy. pmacchia@medicine.bsd.uchicago.edu
authors.forename: P E
authors.initials: PE
authors.lastname: Macchia
authors.forename: M
authors.initials: M
authors.lastname: De Felice
authors.forename: R
authors.initials: R
authors.lastname: Di Lauro
mesh_terms: D000818:Animals; D003409:Congenital Hypothyroidism; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D051379:Mice; D013961:Thyroid Gland / Q000378:metabolism / Q000473:pathology; D013963:Thyroid Hormones / Q000096:biosynthesis
chemical_list: D013963:Thyroid Hormones