Endocrine Abstracts

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...

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...

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...