ESPE Abstracts

Background: Congenital hypothyroidism, one of the most important preventable causes of mental retardation, is a clinical condition characterized by thyroid hormone deficiency in newborns.Objective and hypotheses: Congenital hypothyroidism is most often caused by defects in thyroid development leading to thyroid dysgenesis. TSH receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with congenital hypothyroidism. In t...

Background: Silver–Russell syndrome (SRS; OMIM 180860) is a genetically and clinically heterogeneous low birthweight syndrome characterised by poor postnatal growth and a number of variable dysmorphic features. Small-for-gestational age infants in general have an increased risk of metabolic complications, some initially occurring in late childhood and adolescence.Objective and hypotheses: To identify i) response to GH based on genotype and ii) devel...

Beckwith Wiedemann syndrome (BWS) is a rare overgrowth disorder characterised by macroglossia, exomphalos, lateralised overgrowth, organomegaly, hyperinsulinism, and an increased risk of embryonic tumor during early life. In about 80% of BWS cases, molecular defects are identified at the imprinted 11p15.5 region which contains the IGF2 and the CDKN1C genes (most patients show methylation defects at either imprinting control region IC1 or IC2, or paternal unip...