Congenital malformations and other comorbidities in 125 women with Mayer-Rokitansky-Küster-Hauser syndrome

Kapczuk, Karina; Iwaniec, Kinga; Friebe, Zbigniew; Kędzia, Witold

doi:10.1016/j.ejogrb.2016.10.014

Cited by 33 publications

(41 citation statements)

References 21 publications

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“…Type I (isolated) without any extragenital abnormalities and type II (including MURCS association) with presence of extragenital abnormalities. Table 3 summarizes the extragenital abnormalities reported from larger cohorts [ 3 , 14 , 15 , 86 , 101 , 103 – 105 ]. Renal malformations are the most frequent extragenital abnormalities in MRKH syndrome occurring in ~ 30–40% in European cohorts.…”

Section: Main Textmentioning

confidence: 99%

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

Herlin

Petersen

Brännström³

2020

Orphanet J Rare Dis

171

160

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Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics and a normal female karyotype (46,XX). Main body: The diagnosis is often made during adolescence following investigations for primary amenorrhea and has an estimated prevalence of 1 in 5000 live female births. MRKH syndrome is classified as type I (isolated uterovaginal aplasia) or type II (associated with extragenital manifestations). Extragenital anomalies typically include renal, skeletal, ear, or cardiac malformations. The etiology of MRKH syndrome still remains elusive, however increasing reports of familial clustering point towards genetic causes and the use of various genomic techniques has allowed the identification of promising recurrent genetic abnormalities in some patients. The psychosexual impact of having MRKH syndrome should not be underestimated and the clinical care foremost involves thorough counselling and support in careful dialogue with the patient. Vaginal agenesis therapy is available for mature patients following therapeutical counselling and education with non-invasive vaginal dilations recommended as first-line therapy or by surgery. MRKH syndrome involves absolute uterine factor infertility and until recently, the only option for the patients to achieve biological motherhood was through gestational surrogacy, which is prohibited in most countries. However, the successful clinical trial of uterus transplantation (UTx) by a Swedish team followed by the first live-birth in September, 2014 in Gothenburg, proofed the first available fertility treatment in MRKH syndrome and UTx is now being performed in other countries around the world allowing women with MRKH syndrome to carry their own child and achieve biological motherhood. Conclusion: Several advances in research across multiple disciplines have been made in the recent years and this kaleidoscopic review provides a current status of various key aspects in MRKH syndrome and provides perspectives for future research and improved clinical care.

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Section: Main Textmentioning

confidence: 99%

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

Herlin

Petersen

Brännström³

2020

Orphanet J Rare Dis

171

160

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“…MRKHS is classified as typical-type in case of an isolated, symmetrical uterovaginal aplasia/hypoplasia, or atypical-type 2 when additional congenital malformations are present. Common congenital disorders include skeletal, renal, and heart malformations as well as hearing impairment, but more unusual disorders have also been reported [4].…”

Section: Discussionmentioning

confidence: 99%

Leiomyoma development in Mayer-Rokitansky-Küster-Hauser syndrome: a case report and a narrative review of the literature

et al. 2019

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The development of leiomyomas on the grounds of an aplastic/hypoplastic uterus in patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) has been rarely described. We report the first case of development of multiple leiomyomas in a patient with MRKHS complicated with pulmonary valve stenosis, and we present a narrative review of the existing literature. A 44-year-old patient with MRKHS attended our clinic because of pelvic pain, which was attributed to a pelvic mass found on ultrasound. Magnetic resonance imaging revealed a multinodular mass, indicating either ovarian pathology or the presence of leiomyomas. Exploratory laparotomy was performed, and multiple solid masses on the grounds of two rudimentary uterine buds were observed. Histological analysis revealed multiple leiomyomas arising from parametrial or paratubal tissue. We searched medical databases for articles relevant to leiomyomas and MRKHS. We present a review of the current literature and summarize the clinical manifestation, diagnosis, management, and histopathological findings of all the cases described. We underline that it is important for gynecologists to be aware of this rare clinical entity, and symptomatic leiomyomas cannot be excluded in patients with MRKHS.

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“…Also, some case reports showed that congenital anomalies at distant sites coexisted with Poland syndrome. A recent study reported that concomitant congenital malformations are present in about 50% of women with MRKH syndrome [23]. Thus, other factors such as autosomal dominant inheritance, gene defects, or environmental effects may play a role in Poland syndrome.…”

Section: Discussionmentioning

confidence: 99%

Congenital Malformations of the Reproductive Tract in a Patient with Poland Syndrome: Is There a Connection

2017

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Background: Poland syndrome and Müllerian duct agenesis (Mayer-Rokitansky-Küster-Hauser(MRKH)-like syndrome) are two rare congenital anomalies with unclear etiology. Case Report: An 18-year-old female presented with hypoplasia of the left pectoralis muscles and subcutaneous tissue, hypoplasia of the left breast and nipple, and dextrocardia, typical in those with a severe form of Poland syndrome. She also showed aplasia of the vagina and uterus, bilateral ovarian agenesis, and hyperandrogenism, presenting as MRKH-like syndrome. Conclusion: It is plausible to assume that these two congenital anomalies which arose from distant sites may be interrelated. More cases and further studies will certainly help delineate the pathogenesis of these syndromes.

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Congenital malformations and other comorbidities in 125 women with Mayer-Rokitansky-Küster-Hauser syndrome

Cited by 33 publications

References 21 publications

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

Leiomyoma development in Mayer-Rokitansky-Küster-Hauser syndrome: a case report and a narrative review of the literature

Congenital Malformations of the Reproductive Tract in a Patient with Poland Syndrome: Is There a Connection

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