Genetic aspects in congenital hypothyrodism

• Published in: Arquivos brasileiros de endocrinologia e metabologia Vol. 48; no. 1; pp. 62 - 69
• Main Authors: Perone, Denise, Teixeira, Silvânia S, Clara, Sueli A, Santos, Daniela C dos, Nogueira, Célia R
• Format: Journal Article
• Language: Portuguese
• Published: Brazil 01-02-2004
• Subjects: Congenital Hypothyroidism; Humans; Hypothyroidism - genetics
• ISSN: 0004-2730

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).