Déficit en dual oxydase (DUOX): corrélation génotype-phénotype

Translated title of the contribution: DUOXS defects: Genotype-phenotype correlations

L. Fugazzola, M. Muzza, G. Weber, P. Beck-Peccoz, L. Persani

Research output: Contribution to journalArticlepeer-review


Congenital hypothyroidism (CH) is the most common congenital endocrine disorder, accounting for up to 1:1500 newborns per year. CH can be related to defects in either formation and migration of the thyroid gland (dysgenesis) or thyroid hormone synthesis. The pathogenesis of dysgenetic CH is still largely unknown. On the contrary, several mutations have been found in different genes involved in thyroid dyshormonogenesis (such as pendrin, thyroperoxidase-TPO, thyroglobulin). Recently, new genes involved in the etiology of dyshormonogenesis have been identified: dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2). They are the principal elements generating the hydrogen peroxide needed for TPO function. Mutations in these genes have been associated to transient or permanent CH, with a high intra and interfamilial phenotypic variability. Some hypotheses have been drawn to explain the variability of the DUOX2/A2 phenotype. Among them, the existence of other H 20 2 generating systems, the different requirements for thyroid hormones according to age, the ethnicity, the intake of iodine. In the present paper, the genetic and clinical features of CH caused by defects in the peroxide generator system will be revised.

Translated title of the contributionDUOXS defects: Genotype-phenotype correlations
Original languageFrench
Pages (from-to)82-86
Number of pages5
JournalAnnales d'Endocrinologie
Issue number2
Publication statusPublished - Apr 2011


  • Congenital hypothyroidism
  • DUOX
  • DUOX A
  • Dyshormonogenesis

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism


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