Patient Presentation
A former 34 week gestation male who was now 4 months corrected gestational age was seen for his health maintenance visit. He had transitioned to regular formula feeding at 2 months and was taking his bottle well. His mother had not attempted solid foods. He had good head control in a prone position and was making cooing sounds. He was not consistently rolling over or using his hands at midline. He was stooling and urinating freely. The past medical history was positive for an isolated epispadias.

The pertinent physical exam showed a happy male who was developmentally appropriate for a 2 month old and his corrected gestational age. His growth parameters showed him now to be caught up and on the CDC growth charts he was growing at the 10%. He had a normal physical examination except that the dorsal base of the penis was his urethral opening. A mild curvature to the phallus was also noted.

The diagnosis of of a healthy male, former premature infant with isolated epispadias was made. His mother said that the pediatric urologist was happy with his growth and therefore would be scheduling his surgery soon.

Discussion
The exstrophy-epispadias complex (EEC) is a spectrum of congenitally acquired malformations that affect the urogenital, gastrointestinal and musculoskeletal systems. The most common is classic bladder exstrophy (BE) which occurs in 2.2-3.3 per 100,000 live births. Males are more affected than females. In addition to epispadias, the bladder plate is exposed and lies outside the abdominal wall. Cloacal exstrophy (CE) is the severest form of EEC. It is usually associated with an omphalocoele with multiple organs extending beyond the abdominal wall and are covered by a tissue sac. There can be numerous additional anomalies within CE including kidney abnormalities, duplicated reproductive systems, imperforate anus, and spinal and pelvic bony abnormalities.

BE and CE treatment requires a multidisciplinary team that can plan and carry out the often extensive and multiple surgeries necessary and appropriate pre- and after-care to achieve goals along with the patient and family. As they are complex surgeries, they have a higher rate of anticipated and actual complications. The goals of treatment include urinary and bowel continence and normal organ system growth, normal kidney function, and normal sexual function along with normal psychosocial function. Particular goals may have more importance depending on the patient’s age. Genital hygiene may be more of an issue for a young school age child who needs assistance, whereas a teenager or young adult is likely to be more concerned with sexual functioning.

Initial surgeries are usually performed in young children. Longer-term data supports that youth and young adults who had EEC surgeries were overall satisfied with their parents’ decision to have the surgery(ies) performed. “No decisional regret was found in parents. Reinterventions were associated with a decline in satisfaction, as was a decrease in perceived penile length.” Males with EEC overall have shorter and wider phalluses. Phalloplasty can offer some help for some patients but does have a high complication rate. Females with EEC may have more pregnancy related problems including increased risk of urinary tract infections, miscarriages, and genital prolapse.

Learning Point
Isolated epispadias is the mildest form of EEC and occurs in about 1 per 200,000 births. The urethra is not fully formed and in males “… is open at the dorsal side of the short and curved phallus”, while in females the urethra lies between a bifid clitoris. As this is isolated, the repair is usually less extensive than with BE or CE, but still can have complications.

Questions for Further Discussion
1. How common is hypospadias? A review can be found here.
2. What is normal phallus size? A review can be found here
3. What are common causes of splayed urinary stream? A review can be found here

Related Cases

Disease: Epispadias | Penis Disorders

Symptom/Presentation: Health Maintenance and Disease Prevention

Specialty: Nephrology / Urology

Age: Infant

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews. Information prescriptions for patients can be found at MedlinePlus for these topics: Penile Disorders and Urethral Disorders.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Dunn EA, Kasprenski M, Facciola J, et al. Anatomy of Classic Bladder Exstrophy: MRI Findings and Surgical Correlation. Curr Urol Rep. 2019;20(9):1-7. doi:10.1007/s11934-019-0916-2

Sinatti C, Schechter MY, Spinoit AF, Hoebeke P. Long-term outcome of urethral and genital reconstruction in hypospadias and exstrophy-epispadias complex. Curr Opin Urol. 2021;31(5):480-485. doi:10.1097/MOU.0000000000000920

Haddad E, Hayes LC, Price D, Vallery CG, Somers M, Borer JG. Ensuring our exstrophy-epispadias complex patients and families thrive. Pediatr Nephrol. 2024;39(2):371-382. doi:10.1007/s00467-023-06049-y

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa