ReviewChildren (Basel, Switzerland)2022
Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature.
Review in Children (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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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.
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Who cites it
19 citing papers in PubMed, 29 citations in OpenAlex.
- Menarche in the third decade: congenital adrenal hyperplasia masquerading as Mayer-Rokitansky-Küster-Hauser syndrome.JCEM case reports · 2026Article
- Tc-99m Renal Scintigraphy in Complex Congenital Systemic Syndromes Associated with Congenital Anomalies of the Kidney and Urinary Tract: A Retrospective Single-Center Study.World journal of nuclear medicine · 2026Article
- Differences in sex development among individuals with a female phenotype and an absent uterus: Diagnostic approach.The Journal of international medical research · 2026Article
- Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome.Journal of medical genetics · 2026Article
- Mayer-Rokitansky-Kuster-Hauser Syndrome: From Radiological Diagnosis to Further Challenges-Review and Update.Diagnostics (Basel, Switzerland) · 2026Review
- Mayer-Rokitansky-Küster-Hauser syndrome type II. Case report.JBRA assisted reproduction · 2025Article
- Article
- Interpretative phenomenological analysis and genetic counseling.Journal of genetic counseling · 2025Review
- Epidemiology, etiology and treatment of female vaginal injury.Reproductive health · 2025Review
- Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility.Acta obstetricia et gynecologica Scandinavica · 2025Article
- Psychological evaluation of candidates for the uterus transplantation French trial.Acta obstetricia et gynecologica Scandinavica · 2025Article
- A New Ten-Step Surgical Approach to Mayer-Rokitansky-Küster-Hauser Syndrome-A Preliminary Report of Three Cases.Journal of clinical medicine · 2025Article
- Mayer-Rokitansky-Küster-Hauser syndrome managed with McIndoe's vaginoplasty: a case series and literature review.Annals of medicine and surgery (2012) · 2024Article
- Mayer-Rokitansky-Kuster-Hauser Syndrome Type II with Fused Kidneys in Pelvic Cavity: A Case Report.JNMA; journal of the Nepal Medical Association · 2024Article
- Characterization of the human fetal gonad and reproductive tract by single-cell transcriptomics.Developmental cell · 2024Article
- 46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes.Frontiers in endocrinology · 2024Review
- Mayer-Rokitansky-Küster-Hauser syndrome with idiopathic central precocious puberty: a case report.Translational pediatrics · 2023Article
- Mayer-Rokitansky-Kuster-Hauser syndrome type II with crossed fused renal ectopia: A rare case report.Radiology case reports · 2023Article
- Unusual combination of acute aortic dissection, Mayer-Rokitansky-Küster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report.Frontiers in cardiovascular medicine · 2022Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterizing females with absence of the uterus and part of the vagina. Several genetic defects have been correlated with the presence of MRKH; however, the exact etiology is still unknown due to the complexity of the genetic pathways implicated during the embryogenetic development of the Müllerian ducts. A systematic review (SR) of the literature was conducted to investigate the genetic causes associated with MRKH syndrome and Congenital Uterine Anomalies (CUAs). This study aimed to identify the most affected chromosomal areas and genes along with their associated clinical features in order to aid clinicians in distinguishing and identifying the possible genetic cause in each patient offering better genetic counseling. We identified 76 studies describing multiple genetic defects potentially contributing to the pathogenetic mechanism of MRKH syndrome. The most reported chromosomal regions and the possible genes implicated were: 1q21.1 (
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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.