ESPE Abstracts

Aim: To describe the phenotypes of patients harboring bi-allelic pathogenic variants in IYD gene followed in our Paediatric Endocrinology Clinic.Results: Eight patients (from 4 consanguineous families of Moroccan origin) were homozygous carriers for a pathogenic variant in IYD gene. Their clinical presentation is described in table. All patients presented with a large goiter and severe hypothyroidism wi...

Hypomethylation of the ICR1 in 11p15 is the epigenetic alteration causing Silver Russel Syndrome (SRS) in over 50% of the patients. It is reported that 7-38% of SRS patients have multi-locus imprinting disturbance (MLID). MLID has been suggested to result from maternal mutations affecting the acquisition or maintenance of imprints. We report on a patient with MLID who presented with features of SRS and Temple syndrome in addition to severe 46 XY hypovirilisation, pseudohypopar...

Background: H2O2 produced in large quantities in the thyroid may play a role in the pathogenesis of thyroid nodules and cancer. In vitro, moderate amounts of H2O2 are able to cause similar DNA damage compared to irradiation and even to induce RET/PTC rearrangements.Objective and hypotheses: We compared the defence mechanisms against H2O2 and irradiation in human thyrocytes, T-cell...

Background: H2O2 produced in large quantities in the thyroid may play a role in the pathogenesis of thyroid nodules and cancer. In vitro, moderate amounts of H2O2 are able to cause similar DNA damage compared to irradiation and even to induce RET/PTC rearrangements.Objective and hypotheses: We compared the defence mechanisms against H2O2 and irradiation in human thyrocytes, T-cell...