摘要目的 探讨女性生殖系统发育异常不同类型的构成比、就诊年龄、临床表现、常见的合并畸形及与子宫内膜异位症(内异症)的关系.方法 回顾性分析2002年12月至2016年6月在河北医科大学第二医院住院治疗的生殖系统发育异常患者的临床资料.结果 924例生殖系统发育异常患者中,各种异常类型共计1 261例次,其中以子宫发育异常最为常见(65.3%,824/1 261),其次为阴道发育异常(28.3%,357/1 261)、处女膜闭锁及泌尿生殖道瘘等其他类型(3.7%,47/1 261)、子宫颈发育异常(2.6%,33/1 261).(1)处女膜闭锁及泌尿生殖道瘘等其他类型患者的就诊年龄最小,中位就诊年龄为14.5岁;子宫、阴道及子宫颈发育异常患者的就诊年龄较大,中位就诊年龄分别为25.0、24.0和23.0岁.(2)临床表现缺乏特异性,以查体或辅助检查发现异常、原发性闭经为主,其次为下腹痛、不孕、不良妊娠史.(3)合并其他系统畸形的情况,以合并泌尿系统畸形最常见(4.8%,44/924),其次为合并脊柱畸形(0.5%,5/924)、腹股沟疝(0.4%,4/924)、心脏畸形(0.2%,2/924)、唇腭裂(0.2%,2/924).阴道斜隔综合征和MRKH综合征最易合并其他系统畸形,分别为25和21例.(4)合并内异症的情况,梗阻性生殖系统发育异常患者合并内异症的比例(2.3%,9/385)与非梗阻性生殖系统发育异常患者(1.7%,9/539)比较,差异无统计学意义(P=0.469).结论 女性生殖系统发育异常以子宫发育异常最为常见,其次为阴道发育异常、处女膜闭锁及泌尿生殖道瘘;患者就诊年龄总体较大;常以查体或辅助检查发现异常、原发性闭经、下腹痛、不孕、不良妊娠史而就诊;可合并多种其他系统畸形,以合并泌尿系统畸形最多见,同时还有合并内异症的风险.

abstractsObjective To explore the relationship between different types of female reproductive system dysplasia and age of visit, clinical manifestations, common types of combined malformations and endometriosis. Methods The patient′s medical records in the Second Hospital of Hebei Medical University from December 2002 to June 2016 were collected and retrospectively analyzed. Results Among 924 cases of genital tract dysplasia, uterine dysplasia (65.3%, 824/1 261) was the most common, followed by vaginal dysplasia (28.3%, 357/1 261), hymen atresia and urogenital fistula (3.7%, 47/1 261), and cervical dysplasia (2.6%, 33/1 261). (1) The youngest age was in patients with hymen atresia and urogenital fistula, with a median of 14.5 years old, while the older age were in patients with uterine, vaginal and cervical dysplasia, with median age of 25.0, 24.0 and 23.0 years old, respectively. (2) The clinical manifestations were lack of specificity, mainly abnormal findings of physical examination or accessory examination, primary amenorrhea, lower abdominal pain, infertility, adverse pregnancy history. (3) About other systemic malformations, urological malformations were the most common (4.8%, 44/924), followed by spinal malformations (0.5%, 5/924), inguinal hernia (0.4%, 4/924), heart malformations (0.2%, 2/924), cleft lip and palate (0.2%, 2/924). Oblique vaginal septal syndrome and MRKH syndrome were the most likely to be associated with other system malformations. (4) About combination with endometriosis, there was no significant difference between obstructive genital tract malformations (2.3%, 9/385) and non obstructive genital tract malformations (1.7%, 9/539; P=0.469). Conclusions Female reproductive system dysplasia is the most common in uterine dysplasia, followed by vaginal dysplasia, hymen atresia and urogenital fistula, and cervical dysplasia. The age of visit is generally older, often found by abnormal findings of physical examination or accessory examination, primary amenorrhea, lower abdominal pain, infertility, adverse pregnancy history;and could be combined with a variety of other system malformations, most seen by urinary system malformations,there is also the risk of endometriosis.