Imaging and Diagnostic Challenges in an 11-Year-Old Girl with Vaginal Agenesis: A Case Report.

Abstract

BACKGROUND The prevalence of female genital tract anomalies is around 4-6.9%. Vaginal agenesis is a form of Müllerian agenesis and defined as the congenital absence of the vagina. It affects 1 in 5000 women. During normal fetal development, the Müllerian ducts combine to form the uterus, fallopian tubes, and most of the vagina. However, in cases of vaginal agenesis, the Müllerian ducts fail to fuse to form the upper part of the vagina. This report presents the case of an 11-year-old girl with vaginal agenesis evaluated using ultrasound. CASE REPORT An 11-year-old girl, Tanner stage II, presented with cyclic abdominal pain for 3 months and no menarche. After a hymenectomy for imperforate hymen in January 2023 failed to relieve symptoms, she was referred to our hospital. Physical examination showed a tender lower abdomen with no genital abnormalities. Transabdominal ultrasound was inconclusive for differentiating between a transverse vaginal septum and cervical agenesis with hematometra, and magnetic resonance imaging suggested hematometrocolpos due to a transverse vaginal septum. Intraoperatively, distal vaginal agenesis was identified, and vaginoplasty was performed, evacuating 200 mL of thick blood. The cervix and uterus were normal, and postoperative management included gradual vaginal dilation with a soft mold. This case highlights the diagnostic challenges of distal vaginal agenesis, particularly in patients with a history of imperforate hymen. CONCLUSIONS This report emphasizes the importance of accurate imaging and clinical evaluation in diagnosing reproductive anomalies such as distal vaginal agenesis. Developing techniques to enhance the specificity of imaging modalities is crucial for distinguishing vaginal agenesis from a transverse vaginal septum, ensuring appropriate surgical management and better patient outcomes.