Male and female aphallia associated with severe urinary tract dysplasia

Abstract

Aphallia is exceedingly rare (1/30 million births). Previous reports have provided limited detail on associated urinary tract findings. We reviewed urinary tract anomalies in two boys with aphallia (patients 1 and 2) and a girl with urinary tract dysplasia, a similar external appearance and lack of corporal tissue (patient 3), also consistent with aphallia. Patients 1 and 2 both had a 46XY karyotype, bilateral descended testes in well-formed scrotums, and posterior skin tags containing rudimentary urethras. Patient 1 had a focal area of urethral narrowing; a posterior bladder diverticulum, which drained a ureter; bilateral grade 5 vesicoureteral reflux, with a right partial renal duplication; and hydronephrosis of all moieties. Patient 2 had posterior urethral valves and a bladder diverticulum. Right ureterovesical junction obstruction required a tapered reimplant and later conversion to right-to-left transureteroureterostomy. Patient 3 had a 46XX karyotype and fused, well-formed labia majora. A posterior skin tag was associated with a stenotic urogenital sinus, beyond which were a vagina posteriorly and a right refluxing ureter anteriorly. The left ureter was absent, and a miniscule pouch represented a maldeveloped or absent bladder. Laparoscopy revealed ovaries and normal Müllerian structures. Bilateral renal dysplasia necessitated renal transplant and the creation of an ileocecal neobladder and Mitrofanoff channel. Corporal tissue was diminutive or absent in all. We see from these three patients that corporal tissue absence can occur in both male and female patients. We propose that the term aphallia can apply to both sexes, as it is the absence of corporal tissue that defines this condition. This is the only report to include and characterize findings in both male and female aphallia patients. Labioscrotal folds develop with a smooth appearance, and, posteriorly, a urethral orifice or Urogenital (UG) sinus with skin tag may be seen. Obstruction at the level of the urethra was common. Severe urinary tract dysplasia was seen in all, a finding not consistently seen or characterized in previous reports. In girls with severe urinary tract dysplasia and characteristic genital ambiguity, aphallia should be considered. Co-occurrence of aphallia and severe urinary tract dysplasia warrants further urinary tract imaging in all aphallia patients, including voiding cystourethrography, renal bladder ultrasound, and serum creatinine level. Urinary tract reconstruction may be performed without hampering future penile reconstruction, due to modern phallic reconstructive techniques.