Female megalourethra with imperforate anus: A rare presentation

Abstract

Congenital megalourethra is a rare form of functional obstructive uropathy caused by dysgenesis of the penile corpora cavernosa and spongiosa. Megalourethra is usually described in males and rarely seen in disorders of sexual differentiation. A neonate presented to us with ambiguous genitalia, a megalourethra and imperforate anus. Genetically, the baby was 46XX and the presence of mullerian structures was confirmed during laparotomy. Hormonal workup for congenital adrenal hyperplasia was negative. Although the functional obstruction of the urethra was circumvented by a suprapubic cystostomy, the status of the upper tracts ultimately decided the fate of the child. The presence of crossed fused ectopia with dysplasia and hydronephrosis led to multiple bouts of urosepsis and rapid renal failure. Evaluation of renal as well as other systemic abnormalities is essential for prognosis and planning of treatment.