Female Prune Belly syndrome: A social media survey report

Given the extreme rarity of female Prune Belly syndrome (PBS), there is a scarcity of information on this population. With the rise of social media, these connected communities of female PBS patients provide an opportunity to identify medical and social challenges faced by them.

A 26-question, non-validated REDCap survey was created, IRB approved and administered from Aug 1, 2022 to May 31, 2024. The survey link was circulated through the investigator's institutional social media page. Members of the PBS Network elected to share this social media-based survey to a private Facebook group. No medical records were reviewed on these anonymous subjects. Participants were queried as to whether they had a diagnosis of cloacal anomaly in addition to PBS. Self/family-reported long-term urinary/genital/sexual function outcomes of individuals aged ≤10 versus >10 years old were compared by Fisher's exact analysis with significance p < 0.05 (GraphPad software).

Twelve adults with PBS and 6 caregivers completed the survey for 18 PBS females (ages 2-66y [mean 28y], with n = 5 ≤ 10 years old and the remainder >20 years old). 61% prefer the term PBS over EBS. 38.9% reported diagnosis of PBS + cloacal anomaly. 71.4% of PBS + cloaca anomaly females (mean age 20.4y) manifest kidney dysfunction compared to only 27.8% of PBS patients (mean age 33y) without cloaca anomaly (p = 0.14). Overall rates included self-reported urinary incontinence (61.1%), CIC (38.9%), native kidney disease or failure (50%), and female reproductive anomalies (72.2%). Of the 12 females who are sexually active, 58.3% have cloaca, and 50% patients have successfully become pregnant, with 2 successful vaginal births, 2 successful cesarean section, 1 miscarriage, and 1 abortion. Self-reported challenges include multiple hospital admissions and surgeries, depression, lack of independence, body image issues, and fatigue. 93% of patients reported difficulties with physical activity (inability to run and play sports, wheelchair-bound, and minimal exercise limited by severe pain).

This study demonstrates the utility of social media for characterizing patient-reported outcomes in female PBS, a rare and understudied condition. Female PBS is associated with a substantial lifelong physical burden extending beyond congenital genitourinary anomalies. Despite the high prevalence of Müllerian anomalies, many affected women reported successful pregnancies. These findings underscore the need for prospective studies to better define the natural history, reproductive outcomes, and underlying biology of female PBS.