Article
Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland.
The Journal of clinical endocrinology and metabolism - 1 Nov 2009
Tonacchera Massimo, De Marco Giuseppina, Agretti Patrizia, Montanelli Lucia, Di Cosmo Caterina, Freitas Ferreira Andrea Claudia, Dimida Antonio, Ferrarini Eleonora, Ramos Helton Estrela, Ceccarelli Claudia, Brozzi Federica, Pinchera Aldo, Vitti Paolo
Abstract excerpt
CONTEXT: Some cases of congenital hypothyroidism (CH) are associated with a gland of normal size. OBJECTIVE: To explore the cause of organification defect in one child with CH and a eutopic thyroid gland, genetic analyses of TPO, DUOX2, and DUOXA2 genes were performed. PATIENT: One child with CH, a eutopic thyroid gland, and a partial organification defect was shown after (123)I scintigraphy and perchlorate test....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.