Continent cutaneous diversion and external genitalia reconstruction in a child with severe variety urogenital sinus and ambiguous genitalia.

The diagnosis and management of a child with ambiguous genitalia and severe variety of urogenital sinus with a high vesico-vaginal confluence is challenging. This 4-year-old female child had solitary right kidney with ectopic ureter opening in high variety of urogenital sinus with hypo-plastic urinary bladder and incontinence. We describe genitourinary reconstruction with complete functional rehabilitation in this child. This complex problem was managed with continent urinary diversion with Penn pouch and refashioning of external genitalia, rendering continence and near normal female external genitalia. The child and parents are happy with continence and aesthetically normal external genitalia.

INTRODUCTION

The diagnosis and management of a child with ambiguous genitalia should be considered as an emergency. We describe complete genito-urinary reconstruction in a four year old female child with ambiguous genitalia. The child had right solitary kidney with ectopic ureter opening in high vesico-vaginal confluence with hypo-plastic urinary bladder and continuous incontinence of urine.

CASE REPORT

A 4-year old child presented with continuous incontinence of urine since birth and ambiguous external genitalia, hence was reared like a male child. Child had continuous dribbling and has never passed urine in normal stream. The mother had no history of drug intake or viral fever during pregnancy. Since child was from remote village, antenatal ultrasonography was not done. On general examination, apparently child was healthy looking. External genitalia examination showed prominent and fused labio-scrotal folds with posteriorly placed clitoris with clitoromegaly and an orifice of the urogenital sinus [Figure 1]. Urine analysis showed 4-5 pus cells /high power field. Urine culture was sterile. The renal function tests and serum electrolytes were normal. Serum 17-OH progesterone and urinary ketosteroids were normal. Chromosome analysis showed 46 XX karyotype. Ultrasonography of abdomen and excretory urography revealed mild hydroureteronephrosis of right pelvicalyceal system and ureter and non-visualization of left kidney and urinary bladder. Genitogram showed severe variety urogenital sinus with high vesico-vaginal confluence with anterior hypo-plastic urinary bladder and posterior vagina.

Figure 1

External genitalia showing prominent and fused labio-scrotal folds with posteriorly placed clitoris with clitoromegaly

Genitoscopy showed common urogenital sinus opening, anterior orifice showed hypo-plastic urinary bladder with severely incompetent bladder outlet and ectopic ureteric orifice opening at junction of bladder and vagina, resulting in total urinary incontinence, although renal function was well-preserved.

Since urinary bladder was hypo-plastic with lack of capacity and continence mechanism, continent urinary diversion was planned. The urinary tract reconstruction was done with continent ileocecal pouch, the Penn pouch, using appendix on Mitrofanoff principle, the stoma was placed at the umbilicus. The external genitalia reconstruction was done by clitoroplasty, preserving glans and neurovascular bundles. Two lateral plates from dorsal split phallic and preputial skin were used to construct labia minora and labio-scrotal folds were used to construct labia majora [Figure 2].

Figure 2

Labia minora and labia majora after re-construction and clitoroplasty

Post-operatively, child was asymptomatic; pouchogram was done at 3 weeks which showed good capacity neo-bladder, with no evidence of reflux or urinary leak [Figure 3]. Child was kept on clean intermittent catheterization (CIC) through umbilical stoma and dilation of reconstructed vestibule. Child is on CIC with normal renal functions with asymptomatic bacteriuria over four years of follow up.

Figure 3

Pouchogram showing good capacity neo-bladder, with no evidence of reflux or urinary leak

DISCUSSION

The urogenital sinus is an embryological anomaly which consists of a common channel of urethra and vagina. The major incidence is produced in congenital adrenal hyperplasia context. In certain occasions it can be associated with an imperforate anus, and then the malformation is called a cloacal defect.[1] In the high narrow urogenital sinus malformation, the vagina appears to insert into rather masculinized urethra, occasionally vaginal insertion occurs at a very high level, even as high as the bladder triagone,[2] as in our child.

Continent urinary diversion not incorporating the bladder is seldom used in children. Potential indications include following cystectomy for genitourinary malignancy, and occasionally in cases of bladder exstrophy, cloacal anomalies, or neurogenic bladder.[3] The possibility of functional reconstruction as an alternative to urinary diversion in a case of a severe urogenital sinus with a high confluence between bladder and vagina and with urinary incontinence is presented by Scott G et al.,[4] Sheldon et al., have cited a case of a tiny hypo-plastic bladder with a severely incompetent bladder outlet, in which orthotopic gastric neobladder and orthotopic neourethra was constructed in a Mitrofanoff fashion.[5] Sheldon have also cited a case of solitary kidney which drained through ectopic ureter, resulting in total urinary incontinence. In this case also, the bladder was not deemed suitable for reconstruction; a neobladder was constructed.[2] Our child also had high vesico-vaginal confluence with urinary incontinence; hence, continent urinary diversion with Penn pouch with reversed appendix on Mitrofanoff principle was constructed with cutaneous stoma at umbilicus. Simultaneously, ambiguous genitalia were corrected by clitoral fixation to pubis preserving neurovascular bundles and reconstruction of labia minora and labia majora. Patient has complete continence for 4-5 hours and she evacuates urine by performing CIC through a completely camouflaged stoma at umbilicus. Although patient requires clean intermittent catheterization, this seems to be an acceptable trade off for continence and freedom from an external appliance. Sheldon et al., have performed orthotopic continent catheterizable neourethra using an extension of Mitrofanoff principle.[5] We prefer catheterizable stoma at umbilicus for its ease of intermittent catheterization and reduced incidence of infection, especially in female patients.

Her external genitalia now appear to be functionally and aesthetically pleasing. Complete functional and cosmetic reconstruction of ambiguous genitalia patient with urinary tract abnormality is possible in single stage.