Anterior urethral hamartoma in a female infant with anorectal malformation: A rare case report and literature review.

Introduction And Importance: Urethral hamartoma is highly unusual, as documented in the literature with only one case that ever reported. Here, we report a case of female infant with urethral hamartoma and anorectal malformation.

Case Presentation: An 8 months old female infant was previously diagnosed with anorectal malformation (ARM) with rectovestibular fistula that had underwent colostomy. She presented with a vestibular mass protruding from her vestibule 4 months prior. Preoperative voiding cystourethrography (VCUG) and intraoperative cystoscopy supported that the mass did not originate from the bladder mucosa but rather from anterior urethra. Subsequently, the mass excised, and histopathology result confirmed urethral hamartoma. The procedure was successful without any observed complication and no evidence of recurrence.

Clinical Discussion: Urethral hamartoma is often misdiagnosed as other diseases such as polyps, ureterocele, condyloma acuminatum, and malignant tumors. VCUG and urethral cystoscopy before a complete mass excision are helpful to clarify the location, texture, and size of the tumor, as well as its relationship with the surrounding tissues. Combined with clinical manifestations, the diagnosis of benign tumor can be initially determined, and the final diagnosis depends on the histopathological examination.

Conclusion: Our case is the first case reported in Indonesia. Due to its rarity and nonspecific symptoms, urethral hamartoma may be misdiagnosis as other urethral conditions. This report emphasizes the importance of accurate clinical and histological assessment in pediatric urogenital tumors to avoid misdiagnosis and excessive management. This case also highlights the potential association of urethral hamartoma with other congenital malformations particularly anorectal malformation.