Prevalence and patient characteristics of Mayer–Rokitansky–Küster–Hauser syndrome: a nationwide registry-based study

Herlin, Morten; Bjørn, Anne-Mette Bay; Rasmussen, Maria; Trolle, Birgitta; Petersen, Michael B.

doi:10.1093/humrep/dew220

Cited by 130 publications

(152 citation statements)

References 17 publications

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“…Prevalence has been estimated to be 1 in 5000 live female births [19, 20] and MRKH syndrome is considered the second most common cause of primary amenorrhea after ovarian failure [21]. Patients typically present in their adolescence with complaints of primary amenorrhea; however, other complaints include lower abdominal pain, dyspareunia, and infertility.…”

Section: Introductionmentioning

confidence: 99%

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: Introductionmentioning

confidence: 99%

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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“…In addition, the etiology of MRKH syndrome remains unknown. 2,7 The majority of cases appear to be sporadic, however, reports of familial cases of MRKH syndrome suggest a genetic component. 8 In our patient, we found no family history of this pathology whose prevalence is unknown, and which remains a mystery in our country.…”

Section: Epidemiologymentioning

confidence: 99%

Mayer-Rokitansky-Kuster-Hauser syndrome and ovarian benign teratoma: a case report

Adjoby¹,

Koffi²,

Effoh³

et al. 2020

Int J Reprod Contracept Obstet Gynecol

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Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is an unknown congenital etiology disorder characterized by agenesia or hypoplasia of the Müller ductal system, including the upper vagina, uterus and fallopian tubes. The occurrence of an associated ovarian tumor is rare, with fewer than 20 cases reported to date according to the literature. We report the case of a 14-year-old girl, virgin, who had not yet seen her menarche, complaining of an abdomino-pelvic mass associated with pain. The ultrasound performed revealed a large left ovarian tumor and an absence of uterus. The indication of a laparotomy confirmed the ovarian mass and a complete absence of uterus associated with vaginal hypoplasia. The contralateral ovary was present, and of normal appearance. The pathological examination was in favor of a mature benign multi-tissular teratoma. This is the first case described in our service. The mode of transmission of this entity appears to be autosomal dominant with low penetrance and variable expressivity, suggesting that the incidence of this syndrome is likely underestimated. With the development of techniques of medical assistance to procreation, maternity remains possible, particularly through gestational surrogacy.

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“…The charts were retrieved from June 2015 to October 2015. The validation process and patient characteristics have previously been described in detail (2).…”

Section: Study Design and Patientsmentioning

confidence: 99%

“…The anomaly results in absolute uterine factor infertility and coital difficulties. The prevalence of MRKH syndrome has been reported to be 1 in 5,000 live female births (2,3). The diagnosis is typically established during adolescence when patients present with primary amenorrhea.…”

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confidence: 99%

Treatment of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome in Denmark: a nationwide comparative study of anatomical outcome and complications

Herlin

Bjørn

Jørgensen

et al. 2018

Fertility and Sterility

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Prevalence and patient characteristics of Mayer–Rokitansky–Küster–Hauser syndrome: a nationwide registry-based study

Abstract: None.

Cited by 130 publications

References 17 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

Mayer-Rokitansky-Kuster-Hauser syndrome and ovarian benign teratoma: a case report

Treatment of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome in Denmark: a nationwide comparative study of anatomical outcome and complications

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