(94) Persistent Perineal Groove and Multiple Midline Anomalies in an Adolescent Female

Background: Perineal groove (PG) is a rare congenital anomaly typically affecting newborn females, in which a well-demarcated non-epithelialized wet sulcus of the perineum is lined with mucous membrane and extends from the posterior vaginal fourchette to the anterior margin of the anus. This anomaly is unknown to many clinicians and may be misdiagnosed as a fissure or local trauma. In most cases, PG self-resolves by age 2 years, but if persistent, may cause local irritation and require surgical excision. Most cases of PG are isolated anomalies; some patients have associated anorectal malformations (ARM) or rarely, urogenital anomalies. We present a case of persistent perineal groove in a 16-year-old female who was found to have multiple midline congenital anomalies of the urogenital and Mullerian systems, including septate hymen and bicornuate uterus.

Case: A 16-year-old female was referred to Pediatric & Adolescent Gynecology due to incidental finding of uterine anomaly on imaging. Her history was notable for diagnosis of “anterior anus” in infancy, removal of anal skin tag, right hydronephrosis due to renal calculi, and history of ovarian mature cystic teratoma with omental/peritoneal gliomatosis s/p oophorectomy (age 11) for which she followed with Pediatric Oncology and had regular surveillance pelvic ultrasounds, the most recent of which had shown bicornuate uterus. On pelvic exam, she was found to have a midline vertical hymenal septum and a perineal groove extending from the posterior fourchette to the anal verge. She was also seen by Pediatric Colorectal Surgery due to concern for anterior anus; the anus was noted to be in normal position. Patient was counseled for coordinated surgical repair of both anomalies, and she underwent excision of perineal groove and hymenal septum. Post-operatively, she recovered well without any complications and continued to have normal bowel movements.

Comments: This case highlights the successful diagnosis and management of a rare combination of congenital urogenital and anorectal anomalies in an adolescent. There are several theories as to the embryonal origin of perineal groove. Given that our patient had multiple other midline anomalies, this case supports the idea that PG may result from failure of midline fusion of the medial genital folds. We are not aware of any other cases of persistent perineal groove in late adolescence. This may be because of high rates of spontaneous epithelialization in childhood, but also may be due to under-recognition of perineal groove. Early identification is important to prevent misdiagnosis and provide proper follow-up care.