Genital tract malformations are uncommon congenital anomalies in children and adolescents, typically diagnosed during puberty due to primary amenorrhea, cyclic abdominal pain, or abnormal vaginal discharge. These conditions may impair reproductive and psychological health, often leading to anxiety, depression, and diminished self-esteem. However, the clinical characteristics of patients younger than 14 years remain insufficiently summarized.

We conducted a retrospective review of 62 female patients younger than 14 years who were diagnosed with genital tract malformations between February 2018 and September 2024. Cases were classified according to the Chinese Expert Consensus on the Diagnosis and Treatment of Obstructive Uterovaginal Malformations. Data on clinical presentations, associated anomalies, diagnostic evaluations, management strategies, and outcomes were collected and analyzed. Statistical analyses were performed using SPSS version 21.0, with P < 0.05 considered statistically significant. The study protocol was approved by the Institutional Ethics Committee.

Among the 62 patients, 12 were aged 0–6 years and 50 were aged 6–12 years. The most common presenting symptoms were abdominal pain (62%, 31/50), abnormal physical findings (50%, 6/12), abnormal imaging results (43%, 5/12), and vaginal discharge. The most frequent diagnoses included vaginal atresia, oblique vaginal septum syndrome, and Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. Ultrasonography detected genital tract abnormalities in 96.8% of cases, while 49.1% had concomitant urinary tract malformations, with unilateral renal agenesis being the most prevalent (39%, 24/62). Pelvic MRI was performed in 42 patients (68%), and spinal anomalies such as scoliosis or occult spina bifida were found in 32 (52%). Most patients underwent surgical interventions, including septum resection, vaginoplasty, or combined procedures for urinary or adnexal anomalies. Postoperative outcomes were favorable in the majority, while those with complex malformations required multidisciplinary management.

Genital tract malformations in girls under 14 years present with diverse clinical features, most commonly abdominal pain, amenorrhea, and imaging abnormalities. MRI provides superior assessment of complex anomalies. Given the frequent association with urinary and skeletal malformations, comprehensive evaluation is essential. Early diagnosis and standardized surgical management are critical for optimizing prognosis and reducing long-term complications.