Epispadias

Epispadias is a congenital anomaly characterized by a short phallus with marked upward curvature (dorsal chordee). The problem may also involve the bladder and large intestine. The degree of genital involvement varies: in boys it may be only a small dimple on the dorsum of the glans above the usual meatus; in girls it may include a bifid clitoris. When the urethra or bladder are involved, disease is usually more severe, and the broader spectrum is termed the exstrophy-epispadias complex (see also bladder exstrophy & spectrum). Isolated epispadias is uncommon.

Epispadias is rare - on the order of one in 117,000 males. Affected boys often have a broad, shortened penis curved toward the abdomen (dorsal chordee). The penis may be tethered toward the body when the pelvic bones are widely separated.

Classification follows meatal location: glanular (on the glans), penile (along the shaft), or penopubic (near the pubic bone). Meatal position correlates with bladder storage and continence: the closer the meatus is to the base of the penis, the more likely the bladder will not store urine adequately.

In many cases of penopubic epispadias, the anterior pelvis does not appose normally, the bladder neck cannot close fully, and urinary leakage results. Most boys with penopubic epispadias and approximately two-thirds of those with penile epispadias have stress leakage (e.g. with cough or vigorous activity). They may eventually need bladder neck reconstruction. Nearly all boys with glanular epispadias have a competent bladder neck, normal voiding storage, and typical toilet training - yet the penile deformity (dorsal bend and abnormal opening) still usually warrants surgical repair.

Diagnosis is usually evident at birth. Mild forms may rarely be overlooked initially and become apparent later - for example when a girl remains wet after toilet training despite otherwise normal development.

In straightforward epispadias, extragenital anomalies are uncommon, and extensive radiographic screening is not always required. Infants with severe exstrophy-epispadias complex have a somewhat higher chance of associated findings such as hydroureter or vesicoureteral reflux; management may include antibiotic prophylaxis until reflux is addressed.

Boys with penopubic epispadias or full complex anatomy may face fertility challenges: incomplete bladder neck closure during ejaculation can permit retrograde ejaculation; some have reduced semen quality. Dorsal chordee and a short phallus may complicate intercourse. Modern reconstructive techniques have improved these outcomes for many patients.

Primary goals are to lengthen and straighten the penis by correcting dorsal bend and chordee, and to create functional, cosmetically acceptable genitalia with as few operations as reasonably possible. When the bladder and bladder neck are involved, surgery also targets continence and preservation of fertility where possible.

Two widely used approaches are the modified Cantwell technique (partial penile disassembly and urethral repositioning) and complete penile disassembly, in which the penis is taken apart into the paired corpora cavernosa and corpus spongiosum, then reassembled so the urethra lies in a more natural position and chordee is corrected. Both aim for a straight urethra positioned along the ventral aspect of the penis with acceptable cosmesis. Complete disassembly is associated with lower complication rates in many series and can facilitate bladder and bladder neck work when needed.

Boys with exstrophy-epispadias complex may be born with a very small or severely hypoplastic penis; in such cases reconstruction is more challenging, and occasionally strategies overlap with principles used in phalloplasty. Modern primary newborn repair of the complex allows a substantial subset of patients to achieve urinary control without further bladder neck procedures.

Epispadias in girls is much rarer (roughly one in 565,000). Affected girls have variable separation of the pubic bones; the clitoris may not fuse, leaving two halves. The bladder neck is almost always affected, so stress incontinence is typical. Early surgery often improves control substantially.

Genital reconstruction in girls with bladder exstrophy is often somewhat less complex than in boys. The urethra and vagina may be short and anterior; the clitoris is bifid; internal organs (uterus, tubes, ovaries) are usually normal. If repair is performed early, the clitoral halves can be joined and the urethra can be repositioned; continence may be excellent. If diagnosis is delayed, incontinence can still often be addressed when surgery is undertaken. Narrow vaginal introitus in older girls or young women may be addressed after puberty. Fertility is typically preserved because internal reproductive anatomy is normal.