Exstrophy-epispadias complex (EEC) occurs in 1/10,000 live births and classically presents as bladder exstrophy (BE) with an estimated male:female ratio of 2.4:1–6:1.¹ BE represents a severe congenital genitourinary anomaly which leads to many urinary, sexual and general health challenges as these patients age.² We aim to provide a guide for treating urologists for common clinical situations that arise as men and women with EEC age into adulthood (see Table).

Sexual Health and Fertility

Sexual health is a major concern, particularly among male patients who make up the sizable majority of BE patients.² One of the drivers of sexual health concerns is the typically small phallus associated in men with BE due to congenitally limited corporal tissue.³ One study found that 79% of men reported that BE interferes with sexual or romantic relationships,⁴ while another noted that only 58% of men were moderately or very satisfied with sexual function.⁵ In our transitional practice, men will frequently cite concerns about coital continence, penile size, availability of adequately fitting condoms and penile/groin scarring as barriers to satisfactory sexual relationships. Among women with BE, 46% reported that BE interferes with sexual or romantic relationships.⁴ Additionally, women with BE have substantially higher rates of pelvic organ prolapse ranging from 30%–50% and at a much younger age (16) compared to the general population.^6,7 Ongoing sexual assessment and timely referral to sexual health specialists are recommended. Highly specialized centers may offer penile augmentation/lengthening procedures for men (see Figure).

Table. Clinical pearls: caring for men and women with EEC

Figure. Penile lengthening procedure. a, preoperative stretched penile length. b, intraoperative stretched penile length after degloving. c, penile length at skin closure.

Both male and female patients with BE can present with concerns regarding fertility and assisted reproductive technologies (ARTs). There is no evidence to suggest that male or female patients with BE require ART at higher rates than age-matched peers.⁸ There are limited data on the heritability of EEC and it is likely both genetic and environmental.⁹ Studies have suggested that siblings or children of individuals with EEC are at increased risk of EEC relative to the general population, and ART may also contribute to this risk.¹⁰ If a patient with EEC is interested in family building it is important to counsel them on these uncertain but likely elevated risks. Furthermore, in women with EEC, while there are good data to suggest normal fertility, there are significant risks that warrant discussion and planning during a pregnancy. Women with BE may have an elevated risk of spontaneous abortion and still birth. Data from a series of ˜20 women with BE suggest a spontaneous abortion rate from 15%–35% and stillbirths of ˜7%.⁶ It is crucial that women with BE deliver via planned cesarean section.¹¹ A urologist should be present for the cesarean section to navigate potentially challenging pelvic anatomy including bladder augmentation, bladder neck reconstruction and catheterizable channels.

Urinary Health

Bladder and urinary health is complex and challenging in patients with EEC. Population level data—to the extent they are available on adults with EEC—suggest that most patients have mild to moderate lower urinary tract symptoms and incontinence with relatively low bother scores.² Individual assessment contextualizing the patient’s anatomy (eg presence of bladder augment or current catheterization) is important and should include standard workup recommended for patients for neuropathic bladder. Use of traditional treatments for lower urinary tract symptoms such as alpha blockers is poorly studied in this population and likely of minimal efficacy given prostatic urethral anatomy. While interventions on the prostate for male patients is possible (eg transurethral resection of the prostate, UroLift^® or Rezūm™) there is a higher risk of urinary incontinence following these procedures given the reliance these patients often have on their bladder neck for continence. Continence procedures are possible and often include bladder neck reconstruction or closure with possible catheterizable channel. Slings and artificial urinary sphincters need to be undertaken with care given the abnormal anatomy.

General Health

As men and women with EEC age later into adulthood with improved care, it is important to monitor their renal function. Similar to other patients with neuropathic bladder, multidisciplinary monitoring for chronic kidney disease with creatinine and annual renal/bladder ultrasound are recommended.

Similarly, men and women should undergo regular age-related malignancy screening. Urologists should continue to monitor men for prostate cancer; prostate specific antigen and digital rectal examination are thought to be adequate screening in this population though very little is known. Prostate biopsy and even prostatectomy have been performed with satisfactory oncologic outcome.¹² Surgical approach, continence concerns and prior pelvic operations could make prostatectomy potentially challenging.

As men and women live well into adulthood with EEC, they will continue to require urological care. Based on patient geography or preference, many may desire treatment outside of regional centers of excellence. Benefits of such centers include established multidisciplinary teams. This short review is meant to serve as a rough guide to common concerns that arise in patients with EEC and possible treatment or counseling a urologist could provide.