Síndrome de Mayer-Rokitansky-Küster-Hauser (MRKH), agênese vaginal ou agenesia mülleriana é uma anomalia congênita do aparelho reprodutor feminino caracterizada por uma falha no desenvolvimento dos ductos de Müller, resultando em um útero ausente e graus variáveis de hipoplasia vaginal. O mal ocorre em 1 em cada 5000 a 7000 mulheres nascidas e suas causas não são claramente conhecidas.
Introdução
O que você precisa saber de cara
Aplasia dos canais mullerianos é uma condição rara associada a anomalias geniturinárias, como hipoplasia vaginal e aplasia tubária, frequentemente acompanhada de displasia renal e fusão vertebral. Pode apresentar-se com outras características como sobrancelha esparsa e assimetria facial.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 34 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 74 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:17924661, PubMed:7900999). Binds to the FPC element in the cAMP regulatory unit of the PLAU gene (By similarity). Transcriptional activity is increased by coactivator PCBD1 (PubMed:24204001)
Nucleus
Renal cysts and diabetes syndrome
An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract.
Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Plays an important role in the embryonic development of the urogenital tract and the lung (PubMed:15317892, PubMed:16959810, PubMed:18179883, PubMed:18182450). Required for normal mesenchyme to epithelium transition during embryonic kidney development. Required for the formation of early epithelial renal vesicles during kidney development (By similarity). Required for normal formation of the Mullerian duct in
Secreted, extracellular space, extracellular matrix
46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs
A disease characterized by the association of female-to-male sex reversal with dysgenesis of kidneys, adrenals, and lungs.
Variantes genéticas (ClinVar)
551 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 49 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
11 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Aplasia dos canais mullerianos
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Publicações mais relevantes
Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance.
Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that present with complex clinical features of which severe subtypes like congenital aplasia of the vagina and uterus, may present with primary amenorrhea and dyspareunia, while mild cases like septate uterus, are often asymptomatic. Regardless of the types, the Müllerian anomalies impose both psychological and physical burdens on patients. Currently, the etiology of Müllerian anomalies remains largely unclear, which hinders early diagnosis and intervention. Although the advent of next-generation sequencing technologies has promoted a more comprehensive depiction of genetic features of Müllerian anomalies, there is still a lack of experimental validation for the functions of these genes, where some novel preclinical models having been applied in cancer fields may provide potentially available strategies. Thus, in this review, we aim to summarize the genetic defects and novel validation techniques associated with Müllerian anomalies. Elucidating the genetic mechanisms involving Müllerian anomalies can pave the way for the development of early diagnostic strategies and preventional measures in the future.
Variant phenotypic expression of mosaic Turner syndrome with type II MRKH (MURCS association).
We present a rare case of an unmarried woman in her mid-twenties with primary amenorrhoea who was found to have the unusual coexistence of mosaic Turner syndrome (45, XO/46, XX) and Mayer-Rokitansky-Küster-Hauser syndrome with MURCS association (Müllerian agenesis, Renal anomalies, Cervicothoracic Somite dysplasia). The patient exhibited normal secondary sexual characteristics and was phenotypically female. The patient underwent successful laparoscopic Davydov vaginoplasty in anticipation of marriage. This case highlights the diagnostic complexity and management challenges associated with dual congenital anomalies that affect both gonadal and Müllerian development.
Feasibility of Nurse Practitioner Led Vaginal Dilation Therapy: A Retrospective Brief Report.
to determine feasibility of nurse practitioner (NP) led vaginal dilator therapy as an alternative to pediatric gynecologist-led therapy and create an evidence-based model of care. This is a retrospective, brief report. Electronic medical records were searched using ICD codes for vaginal and uterine agenesis. Patients were included who had participated in vaginal dilator therapy led by a pediatric gynecologist or by an NP in the Access Clinic at BC Women's Hospital. The primary outcomes were patient satisfaction, change in vaginal length, and sexual function throughout treatment. We collected visit details, including number and timing of visits, prescribed dilation schedule. Fourteen patients were included from 15 to 33 years of age. The most common diagnosis was MRKH (93%). 86% of patients were unsatisfied with their sexual activity and vaginal length before treatment. The mean starting vaginal length was 3.4 cm (range 2-5 cm) and the mean vaginal length at completion was 6.75 cm (range 3-10 cm), P < .001. The functional success rate was 85.7% overall, 80% for those followed by pediatric gynecology alone, and 89% for those followed primarily by NPs. Patients were followed for a mean of 15.6 months with a mean of 4.7 visits prior to discharge. Optimal spacing between visits was monthly, with a dilation schedule of one to two times per day for 10 minutes. NP led vaginal dilator therapy is a comparable alternative to pediatric gynecology-led therapy. This is a reasonable option to increase access to care for patients with vaginal agenesis.
The genetic background of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A systematic review.
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by the congenital absence of the uterus and upper vagina, resulting from failed Müllerian duct development during embryogenesis. Given advancements in reproductive medicine enabling genetic motherhood, this study aims to systematically review published research on the genetic and epigenetic factors contributing to MRKH etiopathogenesis. Original peer-reviewed studies were identified through a PubMed search and manual screening of references in included papers and relevant reviews. From 494 records identified in PubMed and 43 through reference screening, 97 studies are included in this systematic review, with 17 examining MRKH patients with additional congenital anomalies or developmental disorders. Implicated genes include WNT and HOXA family members, TBX6, GREB1L, LHX1, LRP10, PAX8, and GATA3, while limited data suggest that the AMH gene and its promoter may act synergistically in combination with other genes. Chromosomal regions such as 17q12, 16p11, 1q21-q22, 22q11, 1q44, 16p13.3, and Xp22.3 may also contribute to MRKH pathogenesis. Findings on epigenetic regulation show variability, with no consistent patterns of specific gene upregulation or downregulation. Genetic aberrations explain the MRKH phenotype in only a subset of cases. Identifying genetic causes enables more targeted genetic counseling in the context of potential genetic motherhood. However, counseling remains complex due to variable expressivity and the poorly understood roles of epigenetic and environmental factors.
Prevalence of Anxiety and Depression in Women with Mayer-Rokitansky-Kϋster-Hauser (MRKH) Syndrome in Malaysia.
To determine the prevalence of anxiety and depression in women with Mayer-Rokitansky-Kϋster-Hauser (MRKH) syndrome in Malaysia. This was a cross-sectional study conducted on women with MRKH living in Malaysia. The study collected the sociodemographic and medical profiles of participants. Two translated and validated questionnaires were used: Generalized Anxiety Disorder-7 (GAD-7) and Patient Health Questionnaire-9 (PHQ-9), to determine the prevalence of anxiety and depression, respectively. A total of 77 women participated in this study. The participants had a mean age of 29.1 ± 8.3 years, and the mean age at MRKH syndrome diagnosis was 20.5 ± 5.0 years. Based on GAD-7 outcomes, up to 29 women (37.7%) experienced anxiety. Following assessment of depression prevalence using the PHQ-9, 25 participants (32.5%) were classified into the depressed group. There was no statistically significant difference in participants' attributes on the basis of the examination of sociodemographic and clinical characteristics between the 2 groups. Further analysis identified that participants with MRKH in the B40 income bracket (<RM 4850, the lowest income bracket group in Malaysia) were 12 times more likely to develop depressive symptoms (OR = 12.83; 95% CI 1.14-143.77; P < .05). Furthermore, participants with MRKH portraying anxiety symptoms were 10 times more likely to also experience depressive symptoms (OR = 10.7; 95% CI 3.18-35.96; P < .05). More than a third of women with MRKH syndrome in Malaysia experienced depression and anxiety, which needs to be addressed.
Publicações recentes
Feasibility of Nurse Practitioner Led Vaginal Dilation Therapy: A Retrospective Brief Report.
The genetic background of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A systematic review.
A Rare Case of Müllerian Agenesis With a Giant Tumor Arising From Uterine Remnants.
Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report.
McIndoe Vaginoplasty in MRKHS: Case Report and Literature Review.
📚 EuropePMC18 artigos no totalmostrando 198
Feasibility of Nurse Practitioner Led Vaginal Dilation Therapy: A Retrospective Brief Report.
Journal of pediatric and adolescent gynecologyThe genetic background of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A systematic review.
Best practice & research. Clinical obstetrics & gynaecologyUnraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance.
Clinical geneticsVariant phenotypic expression of mosaic Turner syndrome with type II MRKH (MURCS association).
BMJ case reportsA Rare Case of Müllerian Agenesis With a Giant Tumor Arising From Uterine Remnants.
Case reports in obstetrics and gynecologyPast, Present, and Future: A Review of Uterus Transplant.
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Medical anthropologyPrevalence of Anxiety and Depression in Women with Mayer-Rokitansky-Kϋster-Hauser (MRKH) Syndrome in Malaysia.
Journal of pediatric and adolescent gynecologyGenetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome.
Journal of medical geneticsUnderstanding the impact of Mayer-Rokitansky-Küster-Hauser syndrome on sexual wellbeing-a qualitative study.
The journal of sexual medicineMayer-Rokitansky-Küster-Hauser Syndrome: Where Does Gynaecological Pathology End and Renal Disease Begin? The Value of a Comprehensive View. Two Case Reports with Adult Onset Kidney Disease and A Review of the Literature.
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologiaVaginal agenesis in MRKH syndrome: integrating surgical technique with long-term psychosexual support .
BMJ case reportsMayer-Rokitansky-Küster-Hauser syndrome type II. Case report.
JBRA assisted reproductionCondylomata acuminata in the neovagina and vulva with HPV6/18 infection in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome after sheares' vaginoplasty: a case report and systematic review.
BMC women's healthFrom Avoidance to Empowerment: Coping Strategies in Women With Müllerian agenesis (MRKH) After McIndoe Reconstruction: A Descriptive Phenomenological Study.
Journal of pediatric and adolescent gynecologySpinal Anomalies in MURCS Association: A Rare Case Report and Systematic Review of the Literature.
Congenital anomaliesGenetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies.
Journal of assisted reproduction and geneticsWhat is the access to NHS fertility treatments for women with Mayer-Rokitansky-Küster-Hauser syndrome across England? A freedom of information study.
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Acta obstetricia et gynecologica ScandinavicaSexual, relational, and psychological functioning in male partners of women with reported Mayer-Rokitansky-Küster-Hauser syndrome-a case-control study.
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Archives of gynecology and obstetricsPsychological well-being of women with uterine infertility before considering uterus transplantation as a treatment option.
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BJOG : an international journal of obstetrics and gynaecology[Sexual functional outcomes of vaginal dilation therapy for MRKH syndrome: a prospective study].
Zhonghua fu chan ke za zhiExperiences of vaginal lengthening treatment and sexual well-being in women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: An interview study.
BJOG : an international journal of obstetrics and gynaecologyExperiences of Pelvic and Generalized Persistent Pain Syndromes in MRKH: A Scoping Review.
Journal of pediatric and adolescent gynecologyUterus transplantation: A scoping review focused on obstetric outcomes.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsMayer-Rokitansky-Kuster-Hauser Syndrome Presented with Diabetes Mellitus and Primary Amenorrhea: A Case Report.
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International urogynecology journalA Minimally Invasive Approach for Laparoscopic-Perineal Sigmoid Colpoplasty: Case Report and Innovations.
The American journal of case reportsAnatomical and Functional Evaluation of Modified Abbe-McIndoe Vaginoplasty at a Tertiary Care Hospital.
Nigerian journal of clinical practice[Adolescent female reproductive system dysplasia: a clinical study of 356 cases].
Zhonghua fu chan ke za zhi[Concomitant extragenital malformations of female reproductive tract anomalies: analysis of 444 cases in Peking Union Medical College Hospital].
Zhonghua fu chan ke za zhi[New concepts in the diagnosis, treatment and fertility of female genital tract malformations].
Zhonghua fu chan ke za zhiAttitudes toward uterus transplantation. An option for motherhood?
Acta obstetricia et gynecologica ScandinavicaSelf-esteem, depression, anxiety and sexual function in Mayer-Rokitansky-Küster-Hauser syndrome with neovagina: A case series.
European journal of obstetrics, gynecology, and reproductive biologyMotherhood and attitudes towards motherhood in women with Mayer-Rokitansky-Küster-Hauser syndrome.
Ginekologia polskaGenetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.
Frontiers in endocrinologyA Case of Chromosome 17q12 Deletion Syndrome with Type 2 Mayer-Rokitansky-Küster-Hauser Syndrome and Maturity-Onset Diabetes of the Young Type 5.
Children (Basel, Switzerland)Classification and treatment of vaginal strictures at the donor-recipient anastomosis after uterus transplant.
Fertility and sterilityVaginoplasty with Amnion Graft: Management of Mayer-Rokitansky-Kuster-Hauser Syndrome.
Journal of Nepal Health Research CouncilMagnetic resonance imaging features of complete androgen insensitivity syndrome in comparison to Mayer-Rokitansky-Küster-Hauser syndrome.
Abdominal radiology (New York)Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.
Molecular and cellular endocrinologyNew neovagina-creating technique on the basis of a fasciocutaneous flap for Müllerian agenesis.
Fertility and sterilityA rare variant of mullerian agenesis: a case report and review of the literature.
Journal of medical case reportsUnderstanding the Diagnostic Odyssey of Women with Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in Denmark: A Qualitative Interview Study.
Journal of pediatric and adolescent gynecologyClinical features and management of women with Mayer-Rokitansky-Küster-Hauser syndrome in a Thai population.
Obstetrics & gynecology scienceUnification and orificing of two functional noncommunicating uterine horns through the created neovagina using peritoneum.
Fertility and sterilityHistological Features of Neovaginal Epithelium after Vaginoplasty in Mayer-Rokitansky-Küster-Hauser Syndrome.
Journal of pediatric and adolescent gynecologyMolecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility-A Systematic Review.
International journal of molecular sciencesLaparoscopic Davydov vs. laparoscopic Vecchietti neovaginoplasty in women with Mayer-Rokitansky-Küster-Hauser syndrome; a systematic review and meta-analysis.
Fertility and sterilityA Rare Case of Lung Hypoplasia, Cardiac Anomalies and Ovarian Tumour in a Patient with Mayer-Rokitansky-Küster-Hauser Syndrome.
Sultan Qaboos University medical journalA case report of laparoscopic surgery for Mayer-Rokitansky-Küster-Hauser syndrome with preservation of functional primordial uterus.
BMC women's healthEffectiveness of non-surgical interventions to improve health and well-being in women living with Mayer-Rokitansky-Kuster-Hauser syndrome: A systematic review.
Journal of advanced nursingAlternative Biological Material for Tissue Engineering of the Vagina: Porcine-Derived Acellular Vaginal Matrix.
Tissue engineering and regenerative medicinePreventive Practices and Knowledge of Human Papillomavirus in Mayer-Rokitansky-Küster-Hauser Syndrome Individuals.
Sexually transmitted diseasesWharton-Sheares-George vaginoplasty: a safe and efficient technique in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
International urogynecology journalLong-term Results of Sexual Function and Body Image After Vaginoplasty With Acellular Dermal Matrix in Women With Mayer-Rokitansky-Küster-Hauser Syndrome.
Journal of minimally invasive gynecologyMayer-Rokitansky-Küster-Hauser syndrome patients' interest, expectations and demands concerning uterus transplantation.
Journal of gynecology obstetrics and human reproductionRecurrent human 16p11.2 microdeletions in type I Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients in Chinese Han population.
Molecular genetics & genomic medicineIssues of identity, perceptions and isolation: An interpretative phenomenological analysis of women's experience of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
Journal of health psychologyA Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 Deletion.
Journal of pediatric and adolescent gynecologyMüllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways.
Journal of pediatric and adolescent gynecologyEvaluation of Sexual Function Outcomes in Patients with Rokitansky Syndrome: A Systematic Review and Meta-analysis.
Journal of minimally invasive gynecologyObstructed hemivagina with ipsilateral renal agenesis (OHVIRA) syndrome: Typical presentation of a rare syndrome.
Radiology case reportsNeovaginoplasty With Nile Tilapia Skin: Cytological and Microbiota Evaluation.
Journal of lower genital tract diseaseInternational Experiences with Vaginal Lengthening Treatment Among Individuals with Müllerian Agenesis: A Mixed-Methods Study.
Journal of pediatric and adolescent gynecologyLaparoscopic intervention for solid pelvic tumours in Mayer-Rokitansky-Küster-Hauser syndrome: a case of bilateral uterine adenomyomas of the rudimentary uterus.
BMJ case reportsRare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.
HGG advancesAtypical Mayer-Rokitansky-Küster-Hauser Syndrome with Bilateral Inguinal Hernia of Adnexa-Laparoscopic Transabdominal Preperitoneal Repair with Ovarian Plication.
Journal of minimally invasive gynecologyA life course perspective on Mayer-Rokitansky-Küster-Hauser syndrome: women's experiences and negotiations of living with an underdeveloped uterus and vagina.
Disability and rehabilitationMayer-Rokitansky-Kuster-Hauser syndrome in a young female: diagnosis and treatment: a case report.
JPMA. The Journal of the Pakistan Medical AssociationAn unusual association of type II Mayer-Rokitansky-Kuster-Hauser syndrome, turner mosaic syndrome and tubo-ovarian inguinal hernia- case report and review of literature.
Journal of ovarian researchRare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.
Human geneticsMenopause: a trigger for simultaneous development of ulcerative colitis in sigmoid neovagina and residual colorectum?
Minerva obstetrics and gynecologyExpanding the reproductive organ phenotype of CHD7-spectrum disorder.
American journal of medical genetics. Part AManagement of partial Müllerian agenesis: staged McIndoe procedure for the creation of a neovagina and utero-neovaginal unification.
International urogynecology journalMayer-Rokitansky-Küster-Hauser Syndrome with Situs Inversus Totalis: A Rare Case Report.
The American journal of case reportsHernia uterine inguinale associated with Mayer-Rokitansky-Küster-Hauser syndrome: Three case reports and literature review.
MedicineMutation analysis of WNT4 gene in SRY negative 46,XX DSD patients with Mullerian agenesis and/or gonadal dysgenesis- An Indian study.
GeneThe long-term outcomes of vaginoplasty using acellular porcine small intestinal submucosa grafts in patients with Mayer-Rokitansky-Küster-Hauser syndrome: A case series.
BJOG : an international journal of obstetrics and gynaecologyNeovagina in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: Vaginoplasty Using Ileal Flap.
Acta medica portuguesaAssessing the morphology and ovarian reserve of the ovaries from Mayer-Rokitansky-Küster-Hauser syndrome patients.
Science China. Life sciencesUpdate on Mayer-Rokitansky-Küster-Hauser syndrome.
Frontiers of medicineHow does the experience of the medical encounter with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome impact women in Africa?
The Pan African medical journalUnusual Torsion of Hematosalpinx in a Case of MRKH Syndrome.
Journal of minimally invasive gynecologyUterine allograft removal by total laparoscopic hysterectomy after successful cesarean delivery in a living-donor uterus recipient with uterovaginal agenesis (MRKHS).
Archives of gynecology and obstetricsFunctional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.
Human molecular geneticsMRI presentations of Müllerian duct anomalies in association with unilateral renal agenesis.
Clinical radiologyLaparoscopic removal of bilateral uterine remnants for symptomatic unilateral leiomyomas in a patient with Müllerian agenesis.
Fertility and sterilityImportance of comprehensive postoperative care among patients with Mayer-Rokitansky-Küster-Hauser syndrome undergoing vaginoplasty in Japan.
The journal of obstetrics and gynaecology researchFunctional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.
Genetics in medicine : official journal of the American College of Medical GeneticsClinical features of Mayer-Rokitansky-Küster-Haüser syndrome diagnosed at under 16 years old: results from a questionnaire survey conducted on all institutions of pediatric surgery and pediatric urology in Japan.
Pediatric surgery internationalHymenal Anomalies Interfering with Dilation in Women with Mullerian Agenesis: A Case Series.
Journal of pediatric and adolescent gynecologyRenal abnormalities associated with Mayer-Rokitansky-Küster-Hauser syndrome.
Folia medicaFirst-Line Therapy for Vaginal Atresia. Conservative Treatment vs Surgical Techniques: Quandaries Looking at Numbers.
Journal of pediatric and adolescent gynecologyPrecocious puberty or growth hormone deficiency as initial presentation in Mayer-Rokitansky-kuster-Hauser syndrome: a clinical report of 5 cases.
BMC pediatricsTissue Engineering Neovagina for Vaginoplasty in Mayer-Rokitansky-Küster-Hauser Syndrome and Gender Dysphoria Patients: A Systematic Review.
Tissue engineering. Part B, ReviewsLaparoscopic Oocyte Retrieval and Cryopreservation during Vaginoplasty for Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome.
Journal of visualized experiments : JoVE[Burden of Affected Persons with MRKH Syndrome: Effect of an Intervention to Support Surgical Neovaginal Placement].
Psychotherapie, Psychosomatik, medizinische PsychologieSexual and Psychosocial Outcome After Neovaginoplasty Using Interceed in Females with Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGCComparison of Sheares vaginoplasty, vaginoplasty using acellular porcine small intestinal submucosa graft and laparoscopic peritoneal vaginoplasty in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
International urogynecology journalAn Association between EMX2 Variations and Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study of Chinese Women.
Journal of healthcare engineeringComparison of the modified laparoscopic Vecchietti and Davydov colpoplasty techniques in Mayer-Rokitansky-Küster-Hauser syndrome: A long-term follow-up analysis.
The journal of obstetrics and gynaecology researchA systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.
Reproduction (Cambridge, England)Endometrial organoids derived from Mayer-Rokitansky-Küster-Hauser syndrome patients provide insights into disease-causing pathways.
Disease models & mechanismsVariants in genes related to development of the urinary system are associated with Mayer-Rokitansky-Küster-Hauser syndrome.
Human genomicsHigh incidence of Mayer-Rokitansky-Küster-Hauser syndrome syndrome in third-generation DES women.
Therapie[Mayer-Rokitansky-Küster-Hauser syndrome: a cause of primary amenorrhea: about a case].
The Pan African medical journalRare variant of atypical Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with breast malformation: case report and review of literature.
Clinical dysmorphologyAdenomyosis in a uterine horn of a patient with Mayer-Rokitansky-Kuster-Hauser syndrome.
BMJ case reportsMayer-Rokitansky-Küster-Hauser Syndrome: MR Manifestations Of Typical And Atypical Cases.
Journal of Ayub Medical College, Abbottabad : JAMCDonor robotic-assisted laparoscopy for uterus transplantation.
Fertility and sterilityPsychological intervention in women with Mayer-Rokitansky-Küster-Hauser syndrome after artificial vaginoplasty: a prospective study.
International urogynecology journalThe Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors.
The Yale journal of biology and medicineGiant hysteromyoma after vaginoplasty in a woman with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: case report and review of the literature.
The Journal of international medical researchA Resection of a Giant Mediastinal Teratoma in a Mayer-Rokitansky-Küster-Hauser Syndrome Patient.
The Annals of thoracic surgeryAgenesis of female internal reproductive organs, the Mayer- Rokitansky-Küster-Hauser syndrome.
Bratislavske lekarske listyClinical and Radiological Findings in Mayer-Rokitansky-Küster-Hauser Syndrome Type 2: Case report.
Sultan Qaboos University medical journalPrimary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.
International journal of molecular sciencesIschial Spinous Fascia Fixation for Dilated Neovaginal Prolapse in Mayer-Rokitansky-Küster-Hauser Syndrome-2 Case Reports.
Journal of pediatric and adolescent gynecologyPresence of Cervical Vertebral Anomalies with Concomitant Non-Communicating Hydrocephalus and Multicystic Kidney in a Female Fetus: Where VACTERL-H Meets MURCS.
Fetal and pediatric pathologyIntestinal Obstruction Secondary to Malformation in a Child with Mayer-Rokitansky-Küster-Hauser Syndrome.
Journal of pediatric and adolescent gynecologyThe Sexuality of Adolescents and Young Women With MRKH Syndrome: A Qualitative Study.
The journal of sexual medicineLaparoscopy as a Facilitator in the Early Diagnosis of a Mullerian Aplasia During Ordinary Surgery.
Asian journal of endoscopic surgeryLIM Homeodomain (LIM-HD) Genes and Their Co-Regulators in Developing Reproductive System and Disorders of Sex Development.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationMayer-Rokitansky-Küster-Hauser syndrome with leiomyomas in a rudimentary uterus treated with transvaginal NOTES.
Taiwanese journal of obstetrics & gynecologyOvarian inguinal hernia - a possibility in MURCS syndrome.
Journal of ovarian researchMethods for neovagina creation in women with Mayer-Rokitansky-Küster-Hauser syndrome for subsequent uterus transplantation.
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, CzechoslovakiaHollow vaginal stent for a case of Mayer-Rokitansky-Kuster-Hauser syndrome: a case report.
The Pan African medical journalA case of neovagina surgical creation using the uterine cervix remnant in a patient with Mayer-Rokitansky-Küster-Hauser syndrome.
Fertility and sterilityComparison of two laparoscopic vaginoplasties using a single peritoneal flap in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
International urogynecology journalSexuality in women with Mayer-Rokitansky-Küster-Hauser syndrome.
Ceska gynekologieMayer-Rokitansky-Küster-Hauser syndrome (müllerian agenesis): a wider window into ethnic phenotypic diversity. Where to from here?
Fertility and sterilityImplications of Ehlers-Danlos Syndrome in a Patient With Mayer-Rokitansky-Küster-Hauser Syndrome.
Journal of pediatric and adolescent gynecologyIncidental Finding of Leiomyoma in Mayer-Rokitansky-Kuster-Hauser Syndrome.
Journal of investigative medicine high impact case reportsMayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report.
Journal of medical case reportsNew Advances in Transplants and Bioengineering Aid in Replacing the Womb.
IEEE pulseThe Peritoneal Neovagina after Davydov's Laparoscopic Procedure in Mayer-Rokitansky-Küster-Hauser Syndrome: Morphology and Ultrastructure Investigation of the New Epithelium.
Journal of minimally invasive gynecologyVaginal bleeding in a misdiagnosed Mayer-Rokitansky-Küster-Hauser syndrome.
BMJ case reportsIncidental detection of Zinner syndrome in a patient with nonseminomatous germ cell tumor of testis.
Urology annalsMyomas in uterine rudiments in a patient with Mayer-Rokitansky-Küster-Hauser syndrome.
Ceska gynekologieUnderstanding of the position of patients with Mayer-Rokitansky-Küster-Hauser syndrome revealed by uterus transplantation research in Japan.
The journal of obstetrics and gynaecology researchClinical characteristics of 1,055 Chinese patients with Mayer-Rokitansky-Küster-Hauser syndrome: a nationwide multicentric study.
Fertility and sterilityClinical pregnancy rates and experience with in vitro fertilization after uterus transplantation: Dallas Uterus Transplant Study.
American journal of obstetrics and gynecologyPrevalence of urinary, prolapse, and bowel symptoms in Mayer-Rokitansky-Küster-Hauser syndrome.
American journal of obstetrics and gynecologyAn insider perspective from Mayer-Rokitansky-Küster-Hauser syndrome patients on uterus transplantation.
Fertility and sterilityNew Laparoscopic Vaginoplasty Procedure With a Modified Peritoneal Pull-Down Technique in Four Patients With Mayer-Rokitansky-Küster-Hauser Syndrome.
Journal of pediatric and adolescent gynecologyGREB1L as a candidate gene of Mayer-Rokitansky-Küster-Hauser Syndrome.
European journal of medical geneticsEffects of different vaginal mould use approaches after vaginoplasty with artificial dermis in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
The Journal of international medical researchCommon pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other malformations of caudal structures.
American journal of medical genetics. Part AGenetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.
Human geneticsPerspectives of 281 patients with Mayer-Rokitansky-Küster-Hauser Syndrome on uterine transplantation.
Fertility and sterilityModified Vecchietti vaginoplasty using self-made single-port laparoscopy in Mayer-Rokitansky-Küster-Hauser syndrome.
Fertility and sterilityPerturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
American journal of human geneticsProtein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndrome.
Scientific reportsFamilial Beckwith-Wiedemann syndrome: Prenatal manifestation and a possible expansion of the phenotype.
European journal of medical geneticsMayer-Rokitansky-Küster-Hauser syndrome associated with fused renal ectopia and hydroureter.
Fertility and sterilityTwelve Live Births After Uterus Transplantation in the Dallas UtErus Transplant Study.
Obstetrics and gynecologyLaparoscopic lateral suspension to treat neovaginal prolapse in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome: A rare case report.
The journal of obstetrics and gynaecology researchEvaluation and Management of Unexpected Functional Rudimentary Uteri in Mayer-Rokitansky-Küster-Hauser Syndrome of Chinese Women.
BioMed research internationalAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance.
- Variant phenotypic expression of mosaic Turner syndrome with type II MRKH (MURCS association).
- Feasibility of Nurse Practitioner Led Vaginal Dilation Therapy: A Retrospective Brief Report.
- The genetic background of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A systematic review.
- Prevalence of Anxiety and Depression in Women with Mayer-Rokitansky-Kϋster-Hauser (MRKH) Syndrome in Malaysia.
- A Rare Case of Müllerian Agenesis With a Giant Tumor Arising From Uterine Remnants.
- Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report.
- McIndoe Vaginoplasty in MRKHS: Case Report and Literature Review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:73217(Orphanet)
- MONDO:0019128(MONDO)
- GARD:7100(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55788497(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
