diphallia

Diphallia is a congenital condition characterized by the duplication of the penis along with a spectrum of related anomalies that primarily affect the genitourinary system. It is classified as a very rare condition, occurring in fewer than 1 in 1,000,000 individuals, and its precise genetic basis is still under investigation. Affected individuals may present at birth with notable differences in genital anatomy and may have associated anomalies involving other systems such as the gastrointestinal and cardiac systems. Overall, the condition is complex and variable, with management tailored to each individual’s presentation.

The clinical presentation of diphallia involves multiple organ systems. In the genitourinary system, characteristic findings include a bifid penis and bifid scrotum, which are observed in a high percentage of cases, and may be accompanied by distal urethral duplication, penoscrotal transposition, ectopic scrotum, and hypospadias. Additional genitourinary features such as cryptorchidism, inguinal hernia, epispadias, ureteral or renal duplication, horseshoe kidney, and abnormalities in spermatogenesis have also been reported. Beyond the genital findings, some individuals may present with gastrointestinal anomalies such as anal atresia, cloacal exstrophy, gastrointestinal duplications, or broader gastrointestinal tract abnormalities. In a subset of cases, skeletal anomalies like abnormal pubic bone morphology and even minor cardiac findings such as atrial septal defects have been observed. Not all individuals experience all features, and severity varies considerably.

The precise genetic basis of diphallia is not yet established, and current evidence suggests that the condition may result from complex genetic and environmental factors. There is no clear inheritance pattern available at this time, and no specific gene has been linked to its development. As a result, the mechanisms that lead to this congenital variation remain under investigation. Families are encouraged to consider genetic counseling to explore any potential implications and to discuss concerns regarding recurrence risks.

Currently, management of diphallia focuses on supportive care and symptom management. As there are no FDA-approved or specifically established foundational therapies, treatment is highly individualized and typically involves a multidisciplinary team that may include pediatric surgeons, urologists, and other relevant specialists. Regular surveillance is an essential part of long-term care, helping to identify potential complications early, and ensuring that any associated anomalies are appropriately managed. Patients and families are encouraged to discuss treatment options and management strategies with their healthcare team, and genetic counseling can provide additional guidance.

The outlook for individuals with diphallia is variable and largely depends on the severity and combination of associated anomalies. With current standards of care and coordinated multidisciplinary management, many individuals can achieve a good quality of life. Outcomes described in medical literature continue to evolve as standards of care improve, and there is a recognition that each case may follow a distinct clinical course. Families often find it helpful to connect with specialists familiar with this condition and to seek genetic counseling for further support and guidance.