ReviewMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V2018
Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome.
Review in Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 2 syntheses or guidelines pooled it, 79 citations in OpenAlex.
- Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility-A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank.Communications biology · 2020Pooled it
- Robotic-assisted laparoscopic excision of rudimentary uteri for chronic pelvic pain in Mayer-Rokitansky-Küster-Hauser syndrome: a case report.International journal of surgery case reports · 2026Article
- Retrograde menses presented as acute stump appendicitis- Mayer-Rokitansky-Küster-Hauser syndrome.Radiology case reports · 2026Article
- Vaginal Agenesis (Mayer-Rokitansky-Kuster-Hauser Syndrome) Presenting with Exertional Dyspnoea, Fatigue and Intermittent Palpitations.European journal of case reports in internal medicine · 2026Article
- Article
- Eph-ephrin signaling and its potential role in female reproductive tract development.Molecular biology reports · 2025Review
- Article
- Comprehensive management of Mayer-Rokitansky-Küster-Hauser syndrome management: A case report.Narra J · 2024Article
- Clinical features and management of women with Mayer-Rokitansky-Küster-Hauser syndrome in a Thai population.Obstetrics & gynecology science · 2024Article
- Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.Frontiers in endocrinology · 2024Review
- Progesterone from ovulatory menstrual cycles is an important cause of breast cancer.Breast cancer research : BCR · 2023Review
- Transcriptomic Analyses of Brains of RBM8A Conditional Knockout Mice at Different Developmental Stages Reveal Conserved Signaling Pathways Contributing to Neurodevelopmental Diseases.International journal of molecular sciences · 2023Article
- Transgender Males as Potential Donors for Uterus Transplantation: A Survey.Journal of clinical medicine · 2022Article
- Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser Syndrome.Journal of clinical medicine · 2022Article
- Precocious puberty or growth hormone deficiency as initial presentation in Mayer-Rokitansky-kuster-Hauser syndrome: a clinical report of 5 cases.BMC pediatrics · 2022Article
- Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature.Children (Basel, Switzerland) · 2022Review
- A rare case of 46,XX gonadal dysgenesis, Mayer-Rokitansky-Kuster-Hauser syndrome, pituitary and thyroid hypoplasia.Endocrinology, diabetes & metabolism case reports · 2022Article
- The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors.The Yale journal of biology and medicine · 2021Review
- Diagnosis and Therapy of Female Genital Malformations (Part 2). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019).Geburtshilfe und Frauenheilkunde · 2021Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome [MIM 277000] is characterised by the absence of a uterus and vagina in otherwise phenotypically normal women with karyotype 46,XX. Clinically, the MRKH can be subdivided into two subtypes: an isolated or type I form can be delineated from a type II form, which is characterised by extragenital malformations. The so-called Müllerian hypoplasia, renal agenesis, cervicothoracic somite dysplasia (MURCS) association can be seen as the most severe phenotypic outcome. The MRKH syndrome affects at least 1 in 4000 to 5000 female new-borns. Although most of the cases are sporadic, familial clustering has also been described, indicating a genetic cause of the disease. However, the mode of inheritance is autosomal-dominant inheritance with reduced penetrance. High-resolution array-CGH and MLPA analysis revealed recurrent aberrations in different chromosomal regions such as TAR susceptibility locus in 1q21.1, chromosomal regions 16p11.2, and 17q12 and 22q11.21 microduplication and -deletion regions in patients with MRKH. Sequential analysis of the genes
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.