ESPE Abstracts

Background: While many causes of 46,XY disorders of sex development (DSD) have been elucidated, the mechanisms leading to 46,XX testicular or ovotesticular DSD are poorly understood. It has been hypothesized that both conditions may represent a phenotypic spectrum and that they might be caused by (different) mutations in the same genes.Methods: Whole exome sequencing was used to identify the molecular cause in ten unrelated patients with 46,XX (ovo)testi...