Abstract

BUSTILLOS,, Alberto; MARIZANDE,, Fernanda  and  CALAHORRANO,, Alicia Zavala. The genetics of congenital hypothyroidism. Salud(i)Ciencia [online]. 2021, vol.24, n.5, pp.237-243.  Epub Nov 05, 2021. ISSN 1667-8682.  http://dx.doi.org/10.21840/siic/165203.

A narrative review was conducted on the genetics of congenital hypothyroidism. The Medline/PubMed, LILACS-BIREME and SciELO databases were used. Original studies published between 2000 and August 2020 were identified. The key words used during the search were as follows: "congenital hypothyroidism", "genetics", "polymorphisms SNPs". Fifty-eight original studies reviewing the molecular basis of congenital hypothyroidism were reviewed. The basic concept of congenital hypothyroidism has been defined as well as the molecular bases that are associated with the development of this disorder. The literature review has identified at least 12 genes encoding proteins which, when mutations occur, are involved in congenital hypothyroidism. Of the 12 genes reported to play an important role in congenital hypothyroidism, errors in 6 genes have been associated with congenital hypothyroidism with thyroid dysgenesis, which implies alterations in the morphogenesis of the thyroid gland, while mutations in 6 other genes have been associated with dyshormonogenesis that generates a total or partial blockage of the biochemical processes involved in the synthesis and secretion of thyroid hormones. The prevalence in South America is reported to vary from approximately 1 per 1000 to 1 per 8000 newborns. The study of molecular genetics shows that in the future it will contribute to the identification of new mutations and associations with clinical phenotypes that could be related to congenital hypothyroidism, thus enhancing diagnosis and treatment.

Keywords : congenital hypothyroidism; genes; epidemiology; therapeutics; genetic.

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