epispadias

**Definition:** Congenital anomaly where the urethra opens on the dorsal aspect of the penis (males) or as a cleft/bifid clitoris with urethra opening between or above the clitoral halves (females). Located anywhere from glans to penopubic to bladder neck.

**Embryology/Pathophysiology:** Abnormal migration of mesenchymal cells that form the genital tubercle, so the genital tubercle develops more cranially/dorsally than normal (in the region of the future urogenital membrane). This leads to the urogenital membrane rupturing in an abnormal, dorsal position. It is part of the bladder exstrophy–epispadias complex (BEEC), which is thought to arise from abnormal cloacal membrane development/ failure of mesenchymal ingrowth between ectoderm and endoderm of the lower abdominal wall.

**Contrast with hypospadias (high-yield):** - Hypospadias: ventral opening; failure of urethral folds to fuse; far more common (~1 in 300 male births); associated with cryptorchidism, inguinal hernia, and ventral chordee. Fix after 6 months old; AVOID circumcision before repair (foreskin used in repair). - Epispadias: dorsal opening; ~1 in 100,000–120,000 male births; associated with dorsal chordee (upward curvature), a widened/short penis, and a split foreskin. - Mnemonic: "**E**pispadias = **E**xposed to the sky/dorsal ('Epi' = upon/above); **H**ypospadias = **H**ypo/below ('Hang low')." Also "Hypospadias is more common; you can 'fall' (hypo) on the ground."

**Clinical features:** - Dorsal urethral meatus, short broad penis, dorsal chordee, deficient dorsal foreskin - Urinary incontinence (especially penopubic type, since the bladder neck/sphincter mechanism is often involved) - Pubic diastasis (widened pubic symphysis), waddling gait - Vesicoureteral reflux (common with bladder neck involvement) → recurrent UTIs, pyelonephritis - Females: bifid clitoris, patulous urethra, depressed mons pubis - Frequently seen with bladder exstrophy (exposed bladder mucosa through lower abdominal wall defect), which is the more severe end of the spectrum; cloacal exstrophy is the most severe.

**Diagnosis:** Clinical examination; imaging (renal/bladder ultrasound, VCUG) to assess upper tract and reflux; evaluate for associated anomalies.

**Management:** Surgical reconstruction (urethroplasty, penile straightening/chordee correction, bladder neck reconstruction for continence), typically performed in infancy/early childhood (e.g., Cantwell–Ransley or modified Cantwell technique, Mitchell technique/penile disassembly). Prophylactic antibiotics for VUR. Continence may require additional procedures (bladder neck reconstruction, augmentation).

**Complications:** Persistent incontinence, urethrocutaneous fistula, stricture, UTIs, reduced fertility in some (esp. with bladder exstrophy), and, in long-standing exstrophy, increased risk of bladder adenocarcinoma.

**Board pearls:** - Epispadias = DORSAL; hypospadias = VENTRAL. - Epispadias → incontinence (compromised sphincter); hypospadias → typically no incontinence. - Hypospadias associated with cryptorchidism and inguinal hernias; epispadias associated with bladder exstrophy and pubic diastasis. - Do not circumcise infants with hypospadias or epispadias before evaluation, since the foreskin may be needed for repair.