Decision-making in pediatric persistent Mullerian duct syndrome

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We are reporting a case of an 18-month old male who presented with bilateral cryptorchidism. The patient underwent an explorative laparoscopy in which two gonads were identified in close proximity to the uterus and fallopian tubes. Biopsy of the gonads confirmed testicular tissue. Genetic analysis demonstrated a 46, XY male. Male external genitalia were appropriate for age with no evidence of female structures. Persistent Mullerian duct syndrome is extremely rare, with approximately 260 cases reported in the literature. Best practice for the extent of surgical management is still evolving as we gather data on long-term outcomes.

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