Persistent Müllerian duct syndrome (PMDS) is a rare difference in sex development, characterized by the presence of Müllerian duct derivatives in 46,XY individuals with male-typical development. Untreated PMDS is associated with risks of infertility and malignancy. In this Review, the authors provide an comprehensive primer on the epidemiology, pathophysiology and management of the condition, considering the need for a high index of clinical suspicion and timely intervention, raised awareness of PMDS among clinicians and multidisciplinary care to optimize outcomes for patients.
- Michael George
- Susan Wong
- Vaibhav Modgil