A case report of complete penoscrotal transposition and associated anomalies in a newborn

Penoscrotal transposition is a rare congenital abnormality in which the scrotum is positioned above the penis. It results from the disrupted development of the genital tubercle and labioscrotal folds. The exact embryological errors are not fully understood, but they may arise from a failure in their migration and fusion around 12 weeks of gestation.

A term male newborn was referred 4 h after birth due to respiratory distress, abnormal genitalia, and failure to pass meconium or urine. He had pulmonary hypertension, early-onset neonatal sepsis, complete penoscrotal transposition, and possibly an anorectal malformation. Evaluation showed elevated creatinine, hyperkalaemia, leucocytosis, and severe pulmonary hypertension. Despite supportive care-including antibiotics, fluids, correction of hyperkalaemia, and sildenafil-he deteriorated and died before surgery. The final diagnosis was a complex congenital anomaly, sepsis, and multiorgan failure leading to death.

Persistent scrotal transposition is associated with midline defects, including anorectal, cardiac, and gonadal anomalies. Early prenatal imaging and thorough postnatal assessments-such as echocardiography, renal imaging, and genetic testing-are essential. The complexity of this anomaly requires organised, multidisciplinary management. By focusing on key investigations and prompt interventions, even with limited resources, outcomes can be enhanced and future diagnostic and prognostic strategies improved.

A rare complete penoscrotal transposition with multiple anomalies and sepsis highlights the importance of multidisciplinary care and enhanced antenatal screening.