The “Compliance Gap” in Surgical Decision-Making for Bardet–Biedl Syndrome with Vaginal Reatresia and Intellectual Disability: A Case for Hysterectomy
Year: 2026
Type: preprint
Study design: Case Report
Abstract: Background: Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by rod-cone dystrophy, obesity, polydactyly, renal dysfunction, and genital anomalies[1]. In female patients, vaginal atresia often leads to hematometrocolpos and cyclic abdominal pain after menarche[2]. The optimal surgical management for BBS patients with concomitant vaginal atresia and intellectual disability remains poorly defined. Case presentation: We report a 13-year-old female with BBS10-related Bardet–Biedl syndrome and intellectual disability, who presented with recurrent hematometrocolpos from complete vaginal reatresia. Infant vaginoplasty for hydrometrocolpos failed due to discontinuation of postoperative dilation.At age 13, recurrent obstruction led her parents to choose hysterectomy, weighing her cognitive status, disease trajectory, and family support. The laparoscopic procedure was uneventful. Conclusions: For adolescent BBS patients with vaginal atresia and intellectual disability, hysterectomy may be a more appropriate and humane surgical option than vaginoplasty. Clinical decision-making for this unique population should extend beyond anatomic reconstruction to address the compliance gap—the fundamental mismatch between the demanding lifelong postoperative care required for vaginoplasty and the patient's limited capacity to comply—which is collectively shaped by cognitive function, disease trajectory, and family support systems. These factors, often overlooked, critically determine postoperative outcomes and quality of life.
Source: Research Square
Authors: Shuangshuang Zhong, Hangmei Jin
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7203778668