ESPE Abstracts

Background: Early genetic diagnosis in patients with disorders of sex development (DSDs) can facilitate clinical management, predict recurrence risks, and augment general knowledge. Novel techniques such as SNP microarrays, GWAS, and exome sequencing have identified mutations in the coding regions of genes linked to DSDs. In some instances, variants in non-coding regions have been associated with 46,XY gonadal dysgenesis, e.g. deletions upstream of SOX9 (PLoS One 2011...