(5) A Rare Combination: Uterine and Distal Vaginal Agenesis with Symptomatic Hydrocolpos

Background: Obstructive Mullerian anomalies of the female reproductive tract affect about 5.5% of people assigned female at birth (AFAB), with Mullerian agenesis and distal vaginal agenesis (DVA) being two common diagnoses. Mullerian agenesis can present in adolescents with primary amenorrhea and pelvic pain when associated with uterine remnants, and DVA presents with primary amenorrhea and cyclic pelvic pain due to hematocolpos. We present a rare case of uterine agenesis with DVA presenting as primary amenorrhea and dilated upper vagina leading to pelvic pain managed by laparoscopic drainage of hydrocolpos.

Case: A sixteen-year-old AFAB seen in pediatric gynecology clinic for primary amenorrhea and non-cyclic pelvic pain was found on examination to have no vaginal opening. Imaging and labs were notable for 46, XX karyotype, normal hormone levels, and pelvic ultrasound confirming uterine absence, normal bilateral ovaries, and a 4 cm thin-walled cystic structure posterior to the bladder. An MRI confirmed uterine absence, normal bilateral ovaries, a 4.3 cm fluid collection between the bladder and rectum at the expected location of the vagina (Figure 1) and crossed fused renal ectopia. Given ongoing pelvic pain and imaging findings, she was taken to the OR for diagnostic laparoscopy with Urology and Gynecology. Cystoscopy confirmed a normal bladder and bilateral orthotopic ureteral orifices with efflux, while concurrent laparoscopy confirmed absence of the uterus and uterine remnants, a dilated cystic structure separate from the bladder and the rectum at the location of the upper vagina, and DVA with palpable dilated structure on rectal examination (Figure 2). The dilated structure was drained with a laparoscopic needle; culture results were negative for bacterial growth and notable for only benign squamous cells. Final diagnosis was deemed to be a hydrocolpos or dilated upper vaginal remnant. She was asymptomatic at her three-month post-operative visit and no recurrence of the fluid collection was noted on rectal examination.

Comments: This is the first report in the literature of an obstructive Mullerian anomaly involving uterine agenesis and DVA, leading to symptomatic hydrocolpos of the upper vaginal remnant successfully managed with laparoscopic drainage. Diagnostic laparoscopy should be considered to formally diagnose and manage obstructive Mullerian anomalies that do not align with classically identified Mullerian variants.