Abstract Book - 26th ESPU Congress, Joint Meeting with ICCS + SPU + AAP/SOU + AAPU + SFU

15:38 - 15:41

S3-2

(CP)

MALE AND FEMALE APHALLIA ASSOCIATED WITH SEVERE URINARY TRACT

DYSPLASIA (UTD)

Ariella FRIEDMAN

, Paul ZELKOVIC

, Edward REDA

, Israel FRANCO

and Lane PALMER

1) North Shore - Long Island Jewish Health System, Urology, Lake Success, USA - 2) Westchester Medical Center,

Urology, Valhalla, USA

PURPOSE

Aphallia is exceedingly rare (1/30,000,000). Prior reports infrequently indicate association with severe UTD. We

describe 3 patients with aphallia and associated UT findings.

MATERIAL AND METHODS

We reviewed UT anomalies in 2 boys with aphallia (Patients 1, 2) and a girl with UTD and similar external appearance

(Patient 3), also consistent with aphallia.

RESULTS

Patients 1 and 2 carried 46XY karyotype, bilateral descended testes in well-formed scrotums, and posterior skin tags

containing rudimentary urethras. Patient 1 had PUV; a posterior bladder diverticulum, which drained a ureter; bilateral

grade 5 VUR, with right duplication; and hydronephrosis of all moieties. Patient 2 had PUV and a bladder diverticulum

(later excised). Right UVJO required tapered reimplant and later conversion to R-L TUU. Patient 3 (Fig. 1E-F, Fig. 2 H-

J) was 46XX and had fused, well-formed labia majora. A posterior skin tag was associated with a stenotic UG sinus,

with a vagina seen proximal and posteriorly. Anteriorly were an atretic right ureter, miniscule bladder, and left refluxing

ureter, consistent with bilateral ureteral ectopia and bladder maldevelopment. Laparoscopy revealed ovaries and

normal Müllerian structures. Bilateral renal dysplasia necessitated transplant, ilecocecal neobladder and

Mitrofanoff. Corporal tissue was diminutive or absent in all.

CONCLUSIONS

This is one of the largest series of aphallia patients with isolated GU abnormalities and the only to include male and

female patients. Labioscrotal folds develop with smooth appearance, and posteriorly, a urethral orifice or UG sinus with

skin tag may be seen. In girls with severe UTD and characteristic genital ambiguity, aphallia should be considered. We

conclude a strong association between aphallia and severe UTD and recommend VCUG, RBUS, and Cr in all aphallia

patients.