PURPOSE: Penoscrotal transposition is a rare congenital abnormality of the external genitalia. We determine whether there is a genetic basis for this disorder, define the incidence of coexisting organ system anomalies, and compare the results of surgical techniques to correct transposition and hypospadias. MATERIALS AND METHODS: We report the largest, single institution series of 53 patients 1 day to 30 years old with penoscrotal transposition. RESULTS: Of the patients 13% had a family history of penoscrotal transposition. Interestingly, we identified 1 family in which inheritance occurred in an X-linked recessive manner. There were 17 (32%) patients who had abnormalities in other organ systems, with the genitourinary system in 9 affected most. A total of 79% of patients had hypospadias and 81% chordee. These anomalies were corrected with a single stage Thiersch-Duplay urethroplasty in 6 patients and complex repair with bladder or buccal mucosa, or a staged procedure in 34. Complication rates for urethroplasty were similar. Correction of the transposition included a Glenn-Anderson technique in 37 patients, Singapore rotational flaps in 7 and V-Y procedure in 6. The Glenn-Anderson repair produced the best cosmetic results and was associated with a significantly lower incidence of complications (p = 0.001). CONCLUSIONS: We identified a subgroup of patients with a family history of penoscrotal transposition. Treatment requires an awareness of the association with other organ system anomalies. The Glenn-Anderson technique was the most successful method to correct transposition. Most patients required release of chordee and complex urethroplasty for hypospadias.
PURPOSE:Penoscrotal transposition is a rare congenital abnormality of the external genitalia. We determine whether there is a genetic basis for this disorder, define the incidence of coexisting organ system anomalies, and compare the results of surgical techniques to correct transposition and hypospadias. MATERIALS AND METHODS: We report the largest, single institution series of 53 patients 1 day to 30 years old with penoscrotal transposition. RESULTS: Of the patients 13% had a family history of penoscrotal transposition. Interestingly, we identified 1 family in which inheritance occurred in an X-linked recessive manner. There were 17 (32%) patients who had abnormalities in other organ systems, with the genitourinary system in 9 affected most. A total of 79% of patients had hypospadias and 81% chordee. These anomalies were corrected with a single stage Thiersch-Duplay urethroplasty in 6 patients and complex repair with bladder or buccal mucosa, or a staged procedure in 34. Complication rates for urethroplasty were similar. Correction of the transposition included a Glenn-Anderson technique in 37 patients, Singapore rotational flaps in 7 and V-Y procedure in 6. The Glenn-Anderson repair produced the best cosmetic results and was associated with a significantly lower incidence of complications (p = 0.001). CONCLUSIONS: We identified a subgroup of patients with a family history of penoscrotal transposition. Treatment requires an awareness of the association with other organ system anomalies. The Glenn-Anderson technique was the most successful method to correct transposition. Most patients required release of chordee and complex urethroplasty for hypospadias.