Overview
Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the normal anatomical relationship between the penis and scrotum is reversed, with the scrotum positioned superior to (above) or surrounding the penis. This condition results from abnormal development of the external genitalia during embryogenesis, specifically a failure of normal infraumbilical midline fusion and labioscrotal migration. The severity can range from incomplete (partial) penoscrotal transposition, where the scrotum partially encroaches on the penile shaft, to complete transposition, where the scrotum is entirely cranial to the penis. Penoscrotal transposition primarily affects the genitourinary system and is frequently associated with other congenital anomalies, including hypospadias, chordee, cryptorchidism, and inguinal hernias. It may also occur as part of broader syndromic conditions or chromosomal abnormalities. The condition is typically identified at birth during physical examination of the newborn. In addition to the genital findings, associated anomalies may involve the urinary tract, cardiovascular system, gastrointestinal tract, and central nervous system, depending on whether the condition is isolated or part of a syndrome. Renal anomalies and anorectal malformations have been reported in some cases. Treatment is surgical and aims to restore normal anatomical positioning of the penis and scrotum, improve cosmetic appearance, and preserve urinary and future reproductive function. Surgical correction typically involves scrotoplasty with repositioning of the scrotal tissue inferior to the penile shaft, and may be combined with repair of associated anomalies such as hypospadias. The timing and complexity of surgery depend on the severity of the transposition and the presence of associated malformations. Outcomes are generally favorable when managed by experienced pediatric urologists or surgeons, though multiple staged procedures may be required in complex cases.
Clinical phenotype terms— hover any for plain English:
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Penoscrotal transposition.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Penoscrotal transposition.
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Common questions about Penoscrotal transposition
What is Penoscrotal transposition?
Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the normal anatomical relationship between the penis and scrotum is reversed, with the scrotum positioned superior to (above) or surrounding the penis. This condition results from abnormal development of the external genitalia during embryogenesis, specifically a failure of normal infraumbilical midline fusion and labioscrotal migration. The severity can range from incomplete (partial) penoscrotal transposition, where the scrotum partially encroaches on the penile shaft, to complete transposition, where the scrotum i
At what age does Penoscrotal transposition typically begin?
Typical onset of Penoscrotal transposition is neonatal. Age of onset can vary across affected individuals.