IMPE Abstracts

Pathways of care for management of DSD are evolving, with poorly described models of care and limited evidence-based guidelines. This study aimed to explore current care models for individuals with DSD in Australasia, to identify perceived gaps/strengths/barriers in current practice and explore the diagnostic approach of clinicians, particularly in regards to genetic testing. An anonymous REDCap online survey was undertaken, recruiting clinicians involved in the diagnosis/mana...

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) ...