Penoscrotal transposition

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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:

Shawl scrotumHP:0000049Abnormality of the urethraHP:0000795Abnormal external genitalia morphologyHP:0000811Patellar aplasiaHP:0006443Dimple chinHP:0010751Penoscrotal transpositionHP:0100600
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Penoscrotal transposition.

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No actively recruiting trials found for Penoscrotal transposition at this time.

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No specialists are currently listed for Penoscrotal transposition.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Penoscrotal transposition.

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Community

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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.