Department of Obstetrics and Gynecology, Erlangen University Hospital, Universitätsstrasse 21-23, Erlangen 91054, Germany.
Reprod Biol Endocrinol. 2012 Aug 20;10:57. doi: 10.1186/1477-7827-10-57.
The aim of this retrospective study was to describe the spectrum of genital and associated malformations in women with Mayer-Rokitansky-Küster-Hauser syndrome using evaluated diagnostic procedures and the Vagina Cervix Uterus Adnex - associated Malformation classification system (VCUAM).
290 women with MRKH syndrome were clinically evaluated with using clinical examinations, abdominal and perineal/rectal ultrasound, MRI, and laparoscopy.
Classification of female genital malformation according to the Vagina Cervix Uterus Adnex - associated Malformation classification system was possible in 284 women (97.9%). Complete atresia of Vagina (V5b) and bilateral atresia of Cervix (C2b) were found in 284 patients (100%). Uterus: bilateral rudimentary or a plastic uterine horns were found in 239 women (84.2%). Adnexa: normal Adnexa were found in 248 women (87.3%). Malformations: associated malformations were found in 126 of 282 evaluable women (44.7%), 84 women (29.6%) had malformations of the renal system. Of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome 212 women (74.7%) could be classified as V5bC2bU4bA0. The most frequent classification was V5bC2bU4bA0M0 (46.8%) diagnosed in 133 of 284 women.
Complete atresia of vagina and cervix were found in all patients, variable malformations were found with uterus and adnexa. A variety of associated malformations were present, predominantly of the renal system. It is therefore recommended that all patients with genital malformations should be evaluated for renal abnormalities.
本回顾性研究旨在通过评估诊断程序和阴道宫颈子宫附件相关畸形分类系统（VCUAM），描述 Mayer-Rokitansky-Küster-Hauser 综合征（MRKH 综合征）女性的生殖器和相关畸形谱。
对 290 例 MRKH 综合征患者进行临床评估，采用临床检查、腹部和会阴/直肠超声、MRI 和腹腔镜检查。
根据阴道宫颈子宫附件相关畸形分类系统对 284 例女性生殖器畸形进行分类（97.9%）。284 例患者（100%）均存在阴道完全闭锁（V5b）和宫颈双侧闭锁（C2b）。子宫：239 例患者（84.2%）存在双侧发育不全或假双角子宫。附件：248 例患者（87.3%）附件正常。畸形：282 例可评估患者中有 126 例（44.7%）存在相关畸形，84 例（29.6%）患者存在肾脏系统畸形。284 例 Mayer-Rokitansky-Küster-Hauser 综合征患者中，212 例（74.7%）可分类为 V5bC2bU4bA0。最常见的分类为 V5bC2bU4bA0M0（46.8%），在 284 例患者中诊断出 133 例。
所有患者均存在阴道和宫颈完全闭锁，子宫和附件存在不同程度的畸形。存在多种相关畸形，主要为肾脏系统畸形。因此，建议对所有生殖器畸形患者进行肾脏异常评估。
