Searchable abstracts of presentations at key conferences in endocrinology

ea0029oc15.4 | Thyroid Basic | ICEECE2012

The DNA methylation as a predisposition factor in the pathogenesis of congenital hypothyroidism in premature infants

Marelli F. , Gentilini D. , Weber G. , Vigone M. , Radetti G. , Persani L.

Introduction: Epidemiological data indicate that children born prematurely have a risk 3–5 fold higher of congenital hypothyroidism (CH). In addition premature infants born small for gestational age (SGA) have a risk of 12% higher to develop IC compared to prematures with appropriate development (AGA). The mechanisms that justify the increased risk of IC are still unknown. Some studies report a pattern of aberrant methylation associated with prematurity, intrauterine feta...

ea0029oc2.2 | Thyroid Clinical I | ICEECE2012

Identification and functional analysis of DUOX2 variants: biallelic mutations are associated with permanent congenital hypothyroidism

Muzza M. , Zamproni I. , Persani L. , Cortinovis F. , Vigone M. , Rabbiosi S. , Beccaria L. , Visser T. , Moreno J. , Weber G. , Fugazzola L.

Since the first identification of DUOX2 as an actor in the pathogenesis of congenital hypothyroidism (CH), several mutations have been associated with transient or permanent CH, with a high intra- and interfamilial phenotypic variability. In the present study, we report clinical and molecular studies of 7 unrelated children and 2 couple of siblings affected with CH and partial iodide organification defect (PIOD).We identified nine novel and five previous...