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...

ea0011p857 | Thyroid | ECE2006

A novel test with recombinant human TSH for the differential diagnosis of congenital hypothryoidism in pediatric age

Fugazzola L , Weber G , Mannavola D , Vannucchi G , Carletto M , Longari V , Persani L , Beck-Peccoz P

Congenital hypothyroidism (CH) affects 1:2.000–3.000 newborns. In most cases, the cause is a developmental defect (dysgenesia) or an arrested migration (ectopia) of the thyroid gland. In the remaining cases TSH resistance or defects in iodide transport or thyroid hormonogenesis account for CH. The differential diagnosis is aimed to recognize permanent CH forms and to achieve an etiologic diagnosis for accurate management and genetic counselling. Appropriate investigations...

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...