Diagnostic Accuracy of Imperforate Hymen at a Single Referral Center

Imperforate hymen (IH) is a rare congenital anomaly that results in vaginal outlet obstruction. IH can cause significant morbidity if not managed appropriately, which depends on accurate identification of the condition. However, data on the accuracy of IH diagnosis is limited. This study aimed to investigate the accuracy of IH diagnosis at a single referral center.

Institutional Review Board approval was obtained for this retrospective chart review. ICD-10 codes identified patients with "hymenal abnormalities" between 2018 and 2023 at a single children's hospital. The primary outcome was the rate of misdiagnosis of IH through comparison of diagnosis codes and chart review. Descriptive statistics and a χ² or Fischer's exact test were utilized as appropriate.

One hundred and sixty-five patients met the inclusion criteria. Fifty-seven were initially diagnosed with IH, and of those patients, 28 (49.1%) were misdiagnosed. Additionally, 5 patients initially diagnosed with a different condition were later found to have IH. There was no significant difference in the misdiagnosis rate between premenarchal and menarchal patients (P = .77). There was a significantly higher rate of misdiagnosis among generalist obstetrics and gynecology providers compared with pediatric gynecologists (P = .04).

Many patients with IH may initially be seen by primary care providers. Due to the rarity of the condition and a lack of provider exposure to IH, misdiagnosis is common. IH is important to distinguish from other anomalies of the reproductive tract, as the management differs. Misdiagnosis of IH may lead to an incorrect surgical approach and subsequent complications. Training and education surrounding IH, along with referral to pediatric gynecology, may help reduce misdiagnosis.