65. Implications of Ehlers Danlos Syndrome in a Patient with Mayer-Rokitansky-Küster-Hauser Syndrome.

Abstract

<h3>Background</h3> 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 is an important consideration. This case report aims to describe the intersection of MRKH and EDS and its impact on vaginal dilation. <h3>Case</h3> A 16-year-old patient with joint hypermobility and type III EDS presented with primary amenorrhea and a karyotype of 46 XX. An MRI confirmed an absent uterus, cervix and upper vagina. Physical exam showed Tanner V breast, Tanner IV pubic hair and an external genital exam revealed a blind ending, 1cm vaginal dimple. She was diagnosed with MRKH. Following her diagnosis, she received vaginal dilation teaching 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 gone from 1 cm to 7-8 cm in depth– a rate much faster than in typically seen. Due to this rapid progress, a urogenital exam was performed. There was no evidence of urethral abnormality, perforation or vaginal prolapse. <h3>Comments</h3> Recognition of EDS in patients with Mullerian 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, avoid tissue prolapse and to prevent the theoretical risk of vaginal perforation.