“For children with exstrophy-epispadias complex (EEC), a spectrum of genitourinary malformation, the clinical focus has typically been on reconstruction of the external genitalia and lower urinary tract to preserve renal function and continence,” explains Anne-Françoise Spinoit, MD, PhD, FEBU, FEAPU. “However, less attention has been paid to long-term evolution of sexuality and fertility once a patient transitions from childhood into adulthood, with very few studies addressing this transition. Moreover, the risk for future psychological and psychosexual problems are often underestimated or not addressed. Furthermore, many patients are lost to follow-up when they transition from pediatric to adult care. This is problematic, as these patients require lifelong follow-up for detection and treatment of sexuality and fertility issues.”

For a paper published in the International Journal of Impotence Research, Dr. Spinoit and colleagues sought to fill the gap in the literature by determining the long-term sexual outcomes of patients with EEC. Sexual outcomes, Dr. Spinoit adds, were hypothesized to be related to those of urinary outcomes. A retrospective database including patients with EEC who had surgery from 1990 to 2019 was created. Data based on patients’ charts included demographics, surgeries, sexual outcomes, and urinary outcomes. For this analysis of sexual outcomes, a subset of the whole population was selected and consisted of patients aged 14 or older who had at least one surgery and at least 12 months of follow-up.

Many Require Multiple Surgeries

The researchers observed high rates of sexual activity in pubertal and post-pubertal males (96%) and women (75%); 79% of men and 67% of women reported sexual satisfaction; and 63% of men reported normal ejaculation. To achieve these rates, however, 96% of men required surgery (84% penoplasty, 52% phalloplasty) and 25% of women required introitoplasty. Fertility was achieved in 67% of men and 100% of women. Assisted reproductive technology (ART) was needed in one male patient. Continence rates were high (diurnal continence in 83% and nocturnal continence in 93%). However, 76% required multiple continence procedures. “The key takeaway from our findings is that in most men and women with EEC, urinary continence and a satisfying sexual life are possible; however, they may require multiple surgeries of the genitalia and lower urinary tract at different stages of life,” Dr. Spinoit says (Table). She adds that while sexual and urinary outcomes seem closely linked, the association needs further investigation for confirmation.

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Fostering Greater Knowledge About Rare Diseases

For future research, Dr. Spinoit and colleagues would like to see urologists develop a standard and validated questionnaire to measure outcomes in patients with congenital genitourinary conditions such as EEC. “Currently, our measurements used for patients with rare conditions are based on the general population and on what is normal in those individuals,” she says. “What is normal for a healthy adult without a congenital condition might not be normal in a healthy adult born with a congenital condition that requires many surgeries. More precise definitions of what is normal, and measurements of what can be achieved, are necessary to help us improve outcomes.”

The study team also notes that as children with EEC become young adults, they experience greater distress related to their reconstructed genitalia, which can be an obstacle to establishing healthy adult relationships. Therefore, they write, “Conversations about sex and sexuality should start around puberty so that patients and families have an appropriate expectation regarding future sexual problems. This will also allow patients an opportunity to discuss any surgeries that may be necessary for them to lead a normal sex life as an adult.”

Finally, Dr. Spinoit would like to see urologists, pediatricians, and other physicians who treat patients with rare diseases help to foster greater knowledge about these conditions and facilitate transition from childhood into adulthood. “We encourage greater cooperation among specialized centers on an international basis,” she says. “This will allow us to create larger databases and increase our knowledge about rare diseases.”