Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome

Rall, Katharina; Eisenbeis, Simone; Henninger, Verena; Henes, Melanie; Wallwiener, D.; Bonin, Michael; Brucker, Sara

doi:10.1016/j.jpag.2014.07.019

Cited by 83 publications

(73 citation statements)

References 55 publications

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“…In a cohort of 346 patients with MRKH syndrome, Rall et al only found the presence of AA in three patients whereas one patient presented with the VACTERL association [30]. The high incidence of AA in patients who presented with the co-occurrence of the VACTERL association and MRKH syndrome is in accordance with the high incidence of AA in patients with VACTERL.…”

Section: Discussionmentioning

confidence: 76%

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature

et al. 2016

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BackgroundThe vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome.Case presentationOur first case was a white girl delivered by caesarean section at 37 weeks of gestation; our second case was a white girl born at a gestational age of 40 weeks. A co-occurrence of vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome was diagnosed in both cases.We performed a systematic literature search in PubMed ((VACTERL) OR (VATER)) AND ((MRKH) OR (Mayer-Rokitansky-Küster-Hauser) OR (mullerian agenesis) OR (mullerian aplasia) OR (MURCS)) without limitations. A similar search was performed in Embase and the Cochrane library. We added two cases from our local center.All cases (n = 9) presented with anal atresia and renal defect. Vertebral defects were present in eight patients. Rectovestibular fistula was confirmed in seven patients. Along with the uterovaginal agenesis, fallopian tube aplasia appeared in five of nine cases and in two cases ovarian involvement also existed.ConclusionsThe co-occurrence of the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome is extremely rare. This group of patients has unusual phenotypic characteristics. The long-term outcome after treatment of defects is not well reported. A single unifying cause is not known and the etiology probably includes both genetic and non-genetic causes. We stress the importance of future studies to optimized treatment, follow-up, and etiology.

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Section: Discussionmentioning

confidence: 76%

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature

et al. 2016

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“…Patients experiencing congenital vaginal aplasia often seek medical care to achieve improved quality of life and increased social acceptance [4][5][6][7][8][9][10]. There are many different approaches to performing vaginoplasty procedures, including the use of split-thickness or full-thickness grafts, amnion vaginoplasty, peritoneal vaginoplasty, or bowel vaginoplasty [4][5][6][7][8][9][10]. There are many different approaches to performing vaginoplasty procedures, including the use of split-thickness or full-thickness grafts, amnion vaginoplasty, peritoneal vaginoplasty, or bowel vaginoplasty [4][5][6][7][8][9][10].…”

Section: Discussionmentioning

confidence: 99%

“…It has been well established that vaginal aplasia is an uncommon congenital anomaly that is usually diagnosed as part of Mayer-Rokitansky-Kuster-Hauser syndrome [10][11][12][13][14][15][16][17]. Patients experiencing congenital vaginal aplasia often seek medical care to achieve improved quality of life and increased social acceptance [4][5][6][7][8][9][10]. A cosmetically acceptable neovagina enables patients to experience a normal sex life.…”

Section: Discussionmentioning

confidence: 99%

The clinical application of laparoscope‐assisted peritoneal vaginoplasty for the treatment of congenital absence of vagina

Qin

Luo

et al. 2016

Intl J Gynecology & Obste

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“…uterus. The interest of magnetic resonance imaging is to better specify the height and extent of vaginal aplasia thus making it possible to guide the choice of the most appropriate surgical technique (14) . The management of these patients is surgical.…”

Section: Case Twomentioning

confidence: 99%

Vaginal Aplasia with Functional Uterus: Two Cases and Review of Literature

Malide¹,

Mamouni²,

Errharay³

et al. 2017

IAM

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Maldevelopment of the vagina is usually combined with aplasia or hypoplasia of the uterus. Objective: To support the clinical peculiarities, imaging and surgical technique of this rare entity. Materials and Methods: This is a retrospective study conducted over 04 years. We collected two cases of vaginal aplasia with functional uterus. The diagnosis was based on clinical data, ultrasound, imaging. Results: Our patients had primary amenorrhea plus chronic, cyclic pelvic pain. The examination found partial vaginal aplasia for the first patient and complete vaginal aplasia for the second patient. Magnetic resonance imaging revealed atresia of the cervix with absence of the upper part of the vagina for the first case, an absence of the vagina for the second case. Both patients had vaginoplasty. The evolution was satisfactory for the first patient and the second evolution was marked by cervicovaginal stenosis, the patient had a hysterectomy. Conclusion: Whatever the surgical technique practiced, vaginoplasty allows in this rare malformation to restore the physical integrity and the sexual function, even if other case resulted in cessation to cervico-vaginal stenosis.

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Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome

Cited by 83 publications

References 55 publications

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature

The clinical application of laparoscope‐assisted peritoneal vaginoplasty for the treatment of congenital absence of vagina

Vaginal Aplasia with Functional Uterus: Two Cases and Review of Literature

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