Isolated Distal Vaginal Agenesis Masquerading as Recurrent Urinary Infections in an Adolescent Female

Abstract

Figure 2. A, Sagittal magnetic resonance image showing the lack of vaginal tissue between the distal urethra and anus. B, Sagittalmagnetic resonance image highlighting theblood-filled dilated vagina. C, Axial view of the hematocolpos. D, Coronal view of the normal left ovarian tissue next to the dilated vagina. A healthy 12-year-old girl with an unremarkable history was referred to pediatric urology with recurrent urinary tract infections. She had not yet started menstruation. Her physical examination was unremarkable except for severe labial adhesions that precluded visualization of her urethral meatus and vaginal introitus. Renal/bladder ultrasonography revealed an absent left kidney with compensatory hypertrophy of the right renal unit, and a distended vagina with echogenic debris representing hematocolpos (Figure 1). The patient’s labial adhesions were lysed in the operating room.No vaginal openingwas apparent on the perineum.Magnetic resonance imaging performed to delineate her pelvic genitourinary anatomy revealed a complex malformation with an absent distal one-third of the vagina, alongwith hydrometrocolpos, a solitaryorthotopic cervix, andanormal leftovary; the right ovarywasnot identified (Figure 2).Due to the paucity of vaginal tissue between the distal urethra and anus, the patient was diagnosed with distal vaginal agenesis. Operative intervention was undertaken within two weeks of her referral. Embryologically, the M€ ullerian ducts give rise to the proximal two-thirds of the vagina, cervix, and uterus. At approximately the 10th week of embryonic development, they contact a thickened portion of the urogenital sinus, which ultimately becomes the distal one-third of the vagina. Vaginal canalization is complete between the third and fifth month of embryologic development. Failure of this canalization, known as vaginal agenesis, can be partial or complete and is mainly associated with other M€ ullerian abnormalities. Isolated vaginal agenesis distal to a normal cervix and uterus is very rare.