par Abu-Khudir, Rasha;Paquette, Jean;Lefort, Anne 
;Libert, Frédérick ;Chanoine, Jean-Pierre ;Vassart, Gilbert ;Deladoëy, Johnny
Référence PloS one, 5, 10, page (e13420)
Publication Publié, 2010
;Libert, Frédérick ;Chanoine, Jean-Pierre ;Vassart, Gilbert ;Deladoëy, JohnnyRéférence PloS one, 5, 10, page (e13420)
Publication Publié, 2010
Article révisé par les pairs
| Résumé : | Congenital hypothyroidism from thyroid dysgenesis (CHTD) is predominantly a sporadic disease characterized by defects in the differentiation, migration or growth of thyroid tissue. Of these defects, incomplete migration resulting in ectopic thyroid tissue is the most common (up to 80%). Germinal mutations in the thyroid-related transcription factors NKX2.1, FOXE1, PAX-8, and NKX2.5 have been identified in only 3% of patients with sporadic CHTD. Moreover, a survey of monozygotic twins yielded a discordance rate of 92%, suggesting that somatic events, genetic or epigenetic, probably play an important role in the etiology of CHTD. |
