Objective: To analyze the incidence and clinical phenotype of the concomitant extragenital malformations in the patients with female reproductive tract anomalies. Methods: A retrospective study was conducted using clinical data of hospitalized patients diagnosed with uterine, cervical, or vaginal malformations from January 2003 to December 2022 in Peking Union Medical College Hospital. The malformations were classified according to American Society for Reproductive Medicine müllerian anomalies classification 2021, and in each type, the incidence and specific manifestations of concomitant extragnital malformations were analyzed. Results: A total of 444 patients were included. The overall incidence of concomitant extragenital malformations was 43.5% (193/444), including urinary system, skeletal system, and other system malformations. Renal malformations on the obstructed side were present in all patients with oblique vaginal septum syndrome (100.0%, 78/78). The total incidence of concomitant extragnital malformations was as high as 8/11 in uterus didelphys, 43.5% (10/23) in unicornuate uterus, 33.6% (79/235) in Mayer-Rokitansky-Küster-Hauser syndrome, 18.8% (6/32) in septate uterus and 18.5% (12/65) in cervical agenesis. Urinary system malformations (30.6%, 136/444) and skeletal system malformations (13.5%, 60/444) were the most common concomitant malformations in all types, in which, unilateral renal agenesis and scoliosis were the most common. Conclusions: Urinary and skeletal system malformations are important features of female reproductive tract anomalies. Urologic ultrasonography and spinal roentgenogram are recommended for all patients with female reproductive tract anomalies.
目的： 分析女性生殖器官畸形中其他系统伴发畸形的发生率和临床表型。 方法： 回顾性分析2003年1月至2022年12月期间于北京协和医院诊断子宫、子宫颈或阴道畸形的住院患者的临床资料，以美国生殖医学学会2021年分类标准为基础进行生殖器官畸形的分类，统计各类生殖器官畸形的伴发畸形发生率和伴发畸形的具体表现。 结果： 总计纳入444例生殖器官畸形患者，泌尿系统、骨骼系统等生殖器官外伴发畸形的总体发生率为43.5%（193/444）。阴道斜隔综合征患者均有梗阻侧的肾脏畸形（100.0%，78/78），双子宫患者的伴发畸形发生率高达8/11，单角子宫为43.5%（10/23），Mayer-Rokitansky-Küster-Hauser综合征为33.6%（79/235），纵隔子宫为18.8%（6/32），子宫颈发育不良为18.5%（12/65）。泌尿系统伴发畸形（30.6%，136/444）和骨骼系统伴发畸形（13.5%，60/444）在各个类型生殖器官畸形中均为最常见的伴发畸形，其中尤以单肾缺如和脊柱侧凸常见。 结论： 伴发泌尿系统和骨骼系统畸形是女性生殖器官畸形的重要特点，推荐对所有女性生殖器官畸形患者行泌尿系统超声和全脊柱正侧位X线片筛查。.