Clinical spectrum and diagnostic challenges of female genital tuberculosis: a 5-year retrospective analysis

To describe the clinical spectrum, diagnosis approaches and the outcomes of female genital tuberculosis (FGTB), and to compare these features with those of female tuberculosis and pregnant tuberculosis cases to characterize the clinical pattern of FGTB cases. A retrospective cohort study was conducted to analyze medical records of female tuberculosis patients who received treatment at a large tertiary hospital in Shenzhen from January 2018 to December 2022. Data on demographics, clinical presentation, laboratory findings, imaging results, diagnostic methods, treatment regimens, and outcomes were systematically collected and analyzed using appropriate statistical methods. In a cohort of 5,123 female tuberculosis patients, those with FGTB ( n = 59) were significantly younger ( P < 0.001) and predominantly aged 20–29 years (27/59, 45.76%). The proportion of extrapulmonary TB cases attributable to FGTB fluctuated between 1.36% (10/733) and 2.39% (23/963), peaking in 2021. Abdominal TB was the most common extrapulmonary TB site in FGTB patients (40/59, 67.80%), primarily presenting as tuberculous peritonitis (19/59, 32.20%) or intestinal TB (8/59, 13.56%). In an exploratory comparison with pregnant TB patients, who predominantly had pulmonary symptoms, FGTB cases exhibited significantly higher rates of gynecological and abdominal symptoms ( P < 0.001), including abnormal uterine bleeding (15/59, 25.42% vs. 0/30, 0%), abdominal pain (23/59, 38.98% vs. 6/30, 20.00%), abdominal distension (12/59, 20.34% vs. 1/30, 3.33%), and weight loss (7/59, 11.86% vs. 0/30, 0%). Abdominal ultrasound abnormalities were specifically associated with FGTB, most commonly presenting as ovarian changes (14/45, 31.11%), pelvic effusion (10/45, 22.22%), and endometrial abnormalities (5/45, 11.11%). Histopathological examination demonstrated the highest positivity rate (32/35, 91.43%), while molecular diagnostics showed inconsistent performance across sample types and acid-fast staining had limited utility. Infertility remained the predominant clinical outcome for FGTB patients. FGTB primarily affects reproductive-age women and is strongly linked to abdominal tuberculosis, notably peritoneal involvement. It typically presents with gynecological/abdominal symptoms rather than pulmonary signs, often leading to delayed diagnosis. In TB-endemic regions, FGTB should be a primary differential in young women with infertility, menstrual irregularities, abdominal pain, and abnormal pelvic imaging. Histopathological examination showed the highest proportion of positive results among tested specimens. Not applicable.