ReviewFrontiers in endocrinology2024
Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.
Review in Frontiers in endocrinology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed.
- Clinical utility of chromosomal microarray analysis in prenatal diagnosis of fetuses with ultrasound soft markers: A retrospective single-center comparative study with karyotyping.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2026Article
- Menarche in the third decade: congenital adrenal hyperplasia masquerading as Mayer-Rokitansky-Küster-Hauser syndrome.JCEM case reports · 2026Article
- Mayer-Rokitansky-Kuster-Hauser Syndrome: From Radiological Diagnosis to Further Challenges-Review and Update.Diagnostics (Basel, Switzerland) · 2026Review
- A rare case of Mayer-Rokitansky-Küster-Hauser syndrome presenting with primary amenorrhea and chronic headaches: a case report.International journal of surgery case reports · 2026Article
- Mayer-Rokitansky-Küster-Hauser syndrome type II. Case report.JBRA assisted reproduction · 2025Article
- Genetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies.Journal of assisted reproduction and genetics · 2025Article
- The newly enacted Italian surrogacy law: Effects on reproductive tourism.Journal of assisted reproduction and genetics · 2025Article
- Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report.Global medical genetics · 2025Article
- Article
- Whole-genome and whole-exome sequencing of Mayer-Rokitansky-Küster-Hauser syndrome-discordant monozygotic twins.Journal of assisted reproduction and genetics · 2025Article
- Co-Occurrence of Sotos Syndrome and Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in 2 Patients.JCEM case reports · 2025Article
- Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility.Acta obstetricia et gynecologica Scandinavica · 2025Article
- Article
- Risk scoring model for lung adenocarcinoma based on PD-L1 related signature reveals prognostic predictability and correlation with tumor immune microenvironment genes was constructed.Frontiers in immunology · 2025Article
- Symptomatic Uterine Rudiments in Adolescents and Adults with Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS): Management and Outcomes.Journal of clinical medicine · 2024Article
- Mayer-Rokitansky-Küster-Hauser syndrome with inguinal hernia, left renal fusion, and malrotation: a rare case.Therapeutic advances in urologyArticle
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly characterized by agenesis/aplasia of the uterus and upper part of the vagina in females with normal external genitalia and a normal female karyotype (46,XX). Patients typically present during adolescence with complaints of primary amenorrhea where the diagnosis is established with significant implications including absolute infertility. Most often cases appear isolated with no family history of MRKH syndrome or related anomalies. However, cumulative reports of familial recurrence suggest genetic factors to be involved. Early candidate gene studies had limited success in their search for genetic causes of MRKH syndrome. More recently, genomic investigations using chromosomal microarray and genome-wide sequencing have been successful in detecting promising genetic variants associated with MRKH syndrome, including 17q12 (
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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 Socratic graph.