Epispadias

Epispadias is a congenital malformation in which the urethral meatus opens on the dorsal surface of the penis in boys. In girls it opens between a bifid clitoris and the anterior vulva. It results from abnormal positioning of the genital tubercle and incomplete closure of the dorsal urethral wall.

It occurs in about 1 in 100,000 to 120,000 male births and about 1 in 500,000 female births. It is part of the exstrophy epispadias complex, in which an isolated glanular, penile or penopubic epispadias lies at the mild end.

In males, the meatus can lie on:

• The glans (glanular).
• The penile shaft (penile).
• The penopubic junction (penopubic), which produces incontinence because the bladder neck and sphincter are poorly formed.

Penile epispadias is typically accompanied by dorsal chordee, a short broad penis with deficient dorsal skin, a hooded foreskin lying ventrally, and a widened pubic diastasis.

In girls, the urethra is short and open, the clitoris is bifid, and the labia are separated. Most have urinary incontinence.

• Dorsal location of the urethral meatus, with the urine stream directed upwards and forwards (males), and open urethral groove.
• Upward penile curvature (dorsal chordee), a short, broad, flattened penis, and a ventrally redundant prepuce with a dorsal cleft.
• Urinary incontinence: absent in glanular, variable in penile, universal in penopubic epispadias; continuous dribbling in girls.
• Pubic diastasis and a waddling gait in severe forms.
• Vesicoureteral reflux in 30 to 40 percent of those with bladder neck involvement, with recurrent urinary tract infection.
• Female: bifid clitoris, anteriorly placed urethral opening, wide set labia minora, and a split mons.
• Associated anomalies: inguinal hernia, undescended testis, and, in the penopubic type, a small bladder.

• Inspection at birth identifies the form and degree of the defect.
• Renal and bladder ultrasound for hydronephrosis, and a voiding cystourethrogram for reflux.
• Pelvic radiography to measure the pubic diastasis.
• Urodynamic evaluation and cystoscopy to assess bladder neck competence and capacity in incontinent children.
• Exclusion of other genitourinary anomalies (hypospadias, exstrophy) and genetic review where complex.
• Serum creatinine and urine culture.

• Surgical repair is the only treatment. It aims to achieve a straight penis of adequate length, a urethra with a meatus on the tip of the glans, urinary continence, and cosmetic and sexual function.
• Timing: genital reconstruction at 6 to 18 months, after testosterone priming when the penis is small. Use testosterone enanthate 25 mg or 2 mg/kg intramuscularly every 4 weeks, 2 to 3 doses, 4 weeks before surgery; or topical dihydrotestosterone 2.5 percent gel twice daily for 4 weeks.
• Modified Cantwell-Ransley repair: mobilise the urethral plate and corporal bodies, and transpose the urethra ventrally. Correct chordee by incisions and corporal rotation (dorsal corporotomies) with closure of the corpora. Reconstruct the glans with a meatus placed ventrally.
• For glanular epispadias, the Mathieu or onlay island flap techniques are used.
• Bladder neck reconstruction and ureteric reimplantation are required for incontinent patients at 4 to 5 years when the bladder capacity is 80 mL or more.
• Options include Young-Dees-Leadbetter, Kropp or Pippi Salle bladder neck repairs, artificial urinary sphincter or bladder neck sling, and bladder augmentation with a catheterisable stoma where needed.
• Girls: clitoral reunification, labioplasty, urethroplasty, and bladder neck repair if incontinent.
• Postoperative care: urethral stent or suprapubic catheter for 7 to 10 days. Give prophylactic antibiotics (trimethoprim 2 mg/kg at night, or nitrofurantoin 1 to 2 mg/kg at night) while catheterised and until the reflux is resolved. Give analgesia (paracetamol 15 mg/kg every 6 hours) and caudal block.
• Complications: urethrocutaneous fistula, meatal stenosis, urethral stricture, residual chordee, penile shortening, wound dehiscence, and persistent incontinence.
• Follow up through puberty and adulthood: urinary flow studies, renal ultrasound, erectile function and ejaculation, and fertility. Semen quality is impaired; sperm retrieval or assisted reproduction may be needed.
• Offer psychological support for body image and sexual function.