ReviewOrphanet journal of rare diseases2007
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
Review in Orphanet journal of rare diseases, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 131 papers, 1 of them a synthesis that pooled it.
What it found
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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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
131 citing papers in PubMed, 1 synthesis or guideline pooled it, 418 citations in OpenAlex.
- Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility-A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Totally extraperitoneal repair of inguinal hernia containing Mullerian remnants in a patient with Mayer-Rokitansky-Küster-Hauser syndrome: a case report.Journal of medical case reports · 2026Article
- Müllerian Agenesis Presenting as Primary Amenorrhea in a 16-Year-Old Girl From a Low-Resource Setting in Bangladesh: Psychological Impact and Multidisciplinary Management.Clinical case reports · 2026Article
- Article
- Retrograde menses presented as acute stump appendicitis- Mayer-Rokitansky-Küster-Hauser syndrome.Radiology case reports · 2026Article
- Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome.Journal of medical genetics · 2026Article
- Delayed presentation of Type I Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in a low-income setting: a case report.Annals of medicine and surgery (2012) · 2026Article
- Article
- Idiopathic Primary Chylopericardium.Arquivos brasileiros de cardiologia · 2026Article
- Mayer-Rokitansky-Kuster-Hauser Syndrome: From Radiological Diagnosis to Further Challenges-Review and Update.Diagnostics (Basel, Switzerland) · 2026Review
- An Overview of Vaginoplasty Techniques: Spotlight on the Efficacy of the Horseshoe Labia Minora Flap.Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India · 2025Article
- Documentation of biological sex and gender in missing person investigations.Forensic science international. Synergy · 2025Article
- The need to integrate mental health treatment into the care of Mayer-Rokitansky-Küster-Hauser.F&S reports · 2025Review
- Whole-genome and whole-exome sequencing of Mayer-Rokitansky-Küster-Hauser syndrome-discordant monozygotic twins.Journal of assisted reproduction and genetics · 2025Article
- Mullerian anomalies: revisiting imaging and classification.Insights into imaging · 2025Article
- Uterine Biosynthesis through Tissue Engineering: An Overview of Current Methods and Status.Current pharmaceutical biotechnology · 2025Review
- Past, Present, and Future: A Review of Uterus Transplant.Transplant international : official journal of the European Society for Organ Transplantation · 2025Review
- [Primary infertility revealing a Rokitansky syndrome: a case report].The Pan African medical journal · 2025Article
- Review
- Prenatal diagnosis of isolated fetal hydrometrocolpos: A case report.Radiology case reports · 2024Article
71 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. It affects at least 1 out of 4500 women. MRKH may be isolated (type I) but it is more frequently associated with renal, vertebral, and, to a lesser extent, auditory and cardiac defects (MRKH type II or MURCS association). The first sign of MRKH syndrome is a primary amenorrhea in young women presenting otherwise with normal development of secondary sexual characteristics and normal external genitalia, with normal and functional ovaries, and karyotype 46, XX without visible chromosomal anomaly. The phenotypic manifestations of MRKH syndrome overlap with various other syndromes or associations and thus require accurate delineation. For a long time the syndrome has been considered as a sporadic anomaly, but increasing number of familial cases now support the hypothesis of a genetic cause. In familial cases, the syndrome appears to be transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity. This suggests the involvement of either mutations in a major developmental gene or a limited chromosomal imbalance. However, the etiology of MRKH syndrome still remains unclear. Treatment of vaginal aplasia, which consists in creation of a neovagina, can be offered to allow sexual intercourse. As psychological distress is very important in young women with MRKH, it is essential for the patients and their families to attend counseling before and throughout treatment.
Indexed as
Identifiers
What OpenQuestion holds
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.