ESPE Abstracts

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...