| Full text | |
| Author(s): |
Denise Perone
[1]
;
Silvânia S. Teixeira
[2]
;
Sueli A. Clara
[3]
;
Daniela C. dos Santos
[4]
;
Célia R. Nogueira
[5]
Total Authors: 5
|
| Affiliation: | [1] UNESP. Faculdade de Medicina. Laboratório de Biologia Molecular
[2] UNESP. Faculdade de Medicina. Laboratório de Biologia Molecular
[3] UNESP. Faculdade de Medicina. Laboratório de Biologia Molecular
[4] UNESP. Faculdade de Medicina. Laboratório de Biologia Molecular
[5] UNESP. Faculdade de Medicina. Laboratório de Biologia Molecular
Total Affiliations: 5
|
| Document type: | Journal article |
| Source: | Arquivos Brasileiros de Endocrinologia e Metabologia; v. 48, n. 1, p. 62-69, 2004-02-00. |
| Field of knowledge: | Health Sciences - Medicine |
| 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). (AU) | |
| FAPESP's process: | 99/03570-3 - Molecular genetics of congenital Hypothyroidism |
| Grantee: | Meyer Knobel |
| Support Opportunities: | Research Projects - Thematic Grants |