Don’t judge a book by its cover – A rare case report of 46,XY disorder of sex development

A rare type of 46,XY disorder of sex development (DSD), persistent Müllerian duct syndrome, is characterized by persistence of Müllerian duct derivatives in patients who are male both genotypically and phenotypically. Here, we present a rare case report of a 4-year-old child presenting with bilateral undescended testes with a delayed diagnosis of 46,XY DSD. A high level of suspicion and awareness is required to diagnose this condition. Early treatment is required to maintain fertility and avoid malignancy in the remaining Müllerian derivatives.