IMPE Abstracts

A 2 year old boy presented with penoscrotal hypospadias, bilateral undescended testes and a bifid scrotum. Initial biochemical workup was not suggestive of a particular underlying diagnosis and he underwent orchidopexy and hypospadias repair. In collaboration with an international team, research genetics was undertaken to look for a cause for his undiagnosed 46,XY DSD. Whole exome sequencing was performed as a trio analysis (with a virtual DSD gene panel comprising 109 genes) ...