Background

Ehlers-Danlos syndromes (EDS) are a heterogenous group of connective tissue disorders characterized by defective collagen production. Patients with EDS have lax and fragile connective tissue in their joints, skin, blood vessels, and hollow organs. This can lead to, among other complications, joint hypermobility, aneurysms, organ prolapse, and musculoskeletal chronic pain. Given that patients with vaginal agenesis, which occurs with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, often require vaginal dilation as part of their treatment, tissue elasticity and fragility are important considerations. This case report aims to describe the intersection of MRKH and EDS and its impact on vaginal dilation.

Case

A 16-year-old girl with joint hypermobility and type III EDS presented with primary amenorrhea and a karyotype of 46 XX. Magnetic resonance imaging confirmed an absent uterus, cervix, and upper vagina. Physical examination showed Tanner V breasts and Tanner IV pubic hair, and an external genital examination revealed a blind-ending, 1-cm vaginal dimple. The patient was diagnosed with MRKH. Following her diagnosis, she received vaginal dilation instruction and returned for follow-up 2 months later, having quickly progressed to the largest vaginal dilator without symptoms of bleeding, pain, or dysuria. In that timeframe, her vaginal dimple had increased from 1 cm to 7-8 cm in depth, a rate much faster than is typically seen. Because of this rapid progress, a urogenital examination was performed. There was no evidence of urethral abnormality, perforation, or vaginal prolapse.

Summary and Conclusion

Recognition of EDS in patients with Müllerian anomalies has important implications for safe and effective vaginal dilation. All patients using vaginal dilation to lengthen the vagina require education on the technique. This need is heightened in patients with EDS in order to prevent accidental dilation of the urethra due to their tissue elasticity, to avoid tissue prolapse, and to prevent the theoretical risk of vaginal perforation.

中文翻译：

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Ehlers-Danlos 综合征对 Mayer-Rokitansky-Küster-Hauser 综合征患者的影响

背景

Ehlers-Danlos 综合征 (EDS) 是一组异质性结缔组织疾病，其特征是胶原蛋白生成缺陷。EDS 患者的关节、皮肤、血管和中空器官的结缔组织松弛且脆弱。这可能导致关节过度活动、动脉瘤、器官脱垂和肌肉骨骼慢性疼痛等并发症。鉴于患有 Mayer-Rokitansky-Küster-Hauser (MRKH) 综合征的阴道发育不全患者通常需要将阴道扩张作为治疗的一部分，因此组织弹性和脆性是重要的考虑因素。本病例报告旨在描述 MRKH 和 EDS 的交叉点及其对阴道扩张的影响。

案件

一名患有关节过度活动和 III 型 EDS 的 16 岁女孩因原发性闭经和核型为 46 XX 就诊。磁共振成像证实没有子宫、子宫颈和阴道上部。体格检查显示 Tanner V 的乳房和 Tanner IV 的阴毛，外生殖器检查显示有一个 1 厘米长的阴道凹陷。该患者被诊断为 MRKH。确诊后，她接受了阴道扩张指导，并在 2 个月后复诊，很快就使用了最大的阴道扩张器，没有出血、疼痛或排尿困难的症状。在那段时间里，她的阴道酒窝深度从 1 厘米增加到 7-8 厘米，这个速度比通常看到的要快得多。由于进展迅速，因此进行了泌尿生殖系统检查。没有尿道异常的证据，

总结与结论

识别 Müllerian 异常患者的 EDS 对安全有效的阴道扩张具有重要意义。所有使用阴道扩张术延长阴道的患者都需要接受该技术的教育。为了防止尿道因其组织弹性而意外扩张，避免组织脱垂，并防止阴道穿孔的理论风险，这种需求在 EDS 患者中得到了加强。