title: [Genetic aspects in congenital hypothyrodism].
abstract: Congenital hypothyroidism (CH) affects between 1:3,000 and 1:4,000 newborns. Many genes are essential for normal development of the hypothalamus-pituitary-thyroid axis and hormone production, and are associated with CH. About 85% of primary hypothyroidism is called thyroid digenesis and evidence suggests that mutations in transcription factors (TTF2, TTF1, and PAX-8) and TSH receptor gene could be responsible for the disease. Genetic defects of hormone synthesis could be caused by mutations in the following genes: NIS (natrium-iodide symporter), pendrine, thyreoglobulin (TG), peroxidase (TPO). Recently, mutations in the THOX-2 gene have also been related to organification defects. Central hypothyroidism affects about 1:20,000 newborns and has been associated with mutations in pituitary transcriptional factors (POUIF1, PROP1, LHX3, and HESX1). The syndrome of resistance to thyroid hormone is rare, implies a hypothyroidism state for some tissues and is frequently associated with dominant autosomal mutations in the beta-receptor (TRss).
authors.affiliation: Departamento de Clínica Médica, Laboratório de Biologia Molecular, Faculdade de Medicina, UNESP, Botucatu, SP.
authors.forename: Denise
authors.initials: D
authors.lastname: Perone
authors.forename: Silvânia S
authors.initials: SS
authors.lastname: Teixeira
authors.forename: Sueli A
authors.initials: SA
authors.lastname: Clara
authors.forename: Daniela C dos
authors.initials: DC
authors.lastname: Santos
authors.forename: Célia R
authors.initials: CR
authors.lastname: Nogueira
mesh_terms: D003409:Congenital Hypothyroidism; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*