Espectro de anomalias do ducto de Muller caracterizado por aplasia congênita do útero e 2/3 superiores da vagina em mulheres fenotipicamente normais. Pode ser classificada como síndrome MRKH tipo 1 (correspondente à aplasia útero-vaginal isolada) ou síndrome MRKH tipo 2 (aplasia útero-vaginal associada a outras malformações).
Introdução
O que você precisa saber de cara
Espectro de anomalias do ducto de Muller caracterizado por aplasia congênita do útero e 2/3 superiores da vagina em mulheres fenotipicamente normais. Pode ser classificada como síndrome MRKH tipo 1 (correspondente à aplasia útero-vaginal isolada) ou síndrome MRKH tipo 2 (aplasia útero-vaginal associada a outras malformações).
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
+ 22 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 54 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, Not applicable.
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.
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.
Variantes genéticas (ClinVar)
551 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 33 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 — Síndrome Mayer-Rokitansky-Küster-Hauser
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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.
Preoperative Considerations for Uterine Fibroid Removal in Patients With Mayer-Rokitansky-Küster-Hauser Syndrome and Klippel-Feil Syndrome: A Case Report.
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a congenital disorder characterized by dysplasia of the uterus and upper vagina due to Müllerian duct dysplasia. Fibroids arise from the rudimentary uterus. The implementation of surgical intervention for uterine fibroids in patients with MRKHS presents several challenges and considerations. The rudimentary uterus is tiny, making it difficult to determine the location of the pelvic mass and diagnose uterine fibroids. Preoperative planning is often inadequate, necessitating intraoperative decision-making. In addition, patients with MRKHS may present with Klippel-Feil syndrome (KFS), characterized by cervical spine fusion, further complicating intraoperative management. In contrast to the typical practice, careful surgical planning along with anesthesia administration and orthopedic surgery is required. In this case, magnetic resonance angiography was utilized to determine the location of the mass and the rudimentary uterus. Screening was conducted to detect any concomitant malformation, such as KFS. Subsequently, a safe laparoscopic surgery was carried out. In this case report, we present the importance and unique considerations of preoperative planning for the surgical intervention of uterine fibroids in patients with MRKHS.
A rare case of Mayer-Rokitansky-Küster-Hauser syndrome presenting with primary amenorrhea and chronic headaches: a case report.
Primary amenorrhea is defined as the absence of menarche by age 13 without secondary sexual characteristics or by age 15 with them. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the second most common cause of primary amenorrhea after ovarian failure. This case highlights a 15-year-old female with MRKH syndrome type I presenting with chronic headaches. A 15-year-old female presented with primary amenorrhea and chronic frontal headaches. She reported non-foul-smelling white per vaginal discharge but denied visual disturbances, limb weakness, or systemic symptoms. Examination revealed normal secondary sexual characteristics, a blind vaginal pouch (0.5 cm), and a low body mass index of 17. Pelvic ultrasonography and MRI confirmed uterine agenesis with normal ovaries and no renal anomalies, consistent with MRKH syndrome. Brain MRI and hormonal profiles were normal, suggesting her headaches were likely nutritional and dehydration related, which improved with dietary optimization. A multidisciplinary team performed McIndoe vaginoplasty using a split-thickness skin graft, successfully creating a 9-cm neovagina. On follow-up, the patient demonstrated good neovaginal patency, maintained regular self-dilatation, and reported improved psychological well-being. MRKH syndrome is a congenital disorder characterized by the absence or underdevelopment of the uterus and upper vagina despite normal external genitalia and a 46,XX karyotype. It affects approximately 1 in 5000 females. Diagnosis is confirmed through imaging, with MRI being the most reliable modality. Although headaches are not commonly associated with MRKH, in this patient, they were likely due to undernutrition, dehydration, and psychological stress. Management of MRKH includes both nonsurgical (vaginal dilation) and surgical approaches. The McIndoe procedure, involving a skin graft to create a neovagina, has shown high success rates in improving sexual function and psychological well-being. Postoperative outcomes highlight the importance of a multidisciplinary approach. This case highlights a rare presentation of MRKH syndrome with primary amenorrhea and headache in a young adolescent. Although headaches may mislead diagnosis, imaging is vital for confirmation and exclusion of other causes. The patient improved following McIndoe vaginoplasty, emphasizing timely diagnosis, multidisciplinary care, and psychological support for optimal outcomes.
Laparoscopic Davydov Neovagina Creation in Mayer-Rokitansky-Küster-Hauser Syndrome with Pancake Kidney and a Solitary Ureter Using Dual Indocyanine Green Fluorescence Guidance.
To demonstrate a novel dual indocyanine green (ICG) fluorescence-guided laparoscopic Davydov procedure for neovagina creation in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and a pancake kidney with a solitary ureter. Tertiary referral center. A 24-year-old woman with MRKH syndrome and a right-sided pancake kidney with a single ureter, presenting for definitive surgical management. Total laparoscopic Davydov neovagina creation was performed with dual fluorescence guidance. Prophylactic intravenous cefazolin (2 g) was administered at induction in accordance with institutional guidelines. An ICG-soaked rectal pad was positioned to delineate the rectal boundary during rectovaginal tunnel development under near-infrared imaging. Cystoscopy confirmed solitary ureteral anatomy, followed by selective ureteral catheterization and intraluminal ICG instillation to enable continuous real-time visualization during peritoneal mobilization and suturing. The neovaginal pouch was constructed using mobilized peritoneum circumferentially sutured to the introitus with extracorporeal knot-tying, followed by standardized postoperative stenting and dilation. Dual-structure ICG fluorescence guidance represents an innovative and reproducible adjunct for laparoscopic Davydov neovagina creation. Simultaneous visualization of the rectum and a solitary ureter in the setting of complex renal fusion anomalies enhances anatomic precision and may improve surgical safety during technically demanding MRKH reconstructions.
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Pathophysiology : the official journal of the International Society for PathophysiologyLaparoscopic Sigmoid Vaginoplasty for the Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome in a Single Center: 20 years' Experience.
International urogynecology journalMayer-Rokitansky-Küster-Hauser syndrome managed with McIndoe's vaginoplasty: a case series and literature review.
Annals of medicine and surgery (2012)46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes.
Frontiers in endocrinology[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].
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Frontiers in psychologySelf-esteem, depression, anxiety and sexual function in Mayer-Rokitansky-Küster-Hauser syndrome with neovagina: A case series.
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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)Bilateral indirect ovarian inguinal hernia in a young female with type 1 Mayer-Rokitansky-Küster-Hauser syndrome: An extremely rare clinical context.
Clinical case reportsNew neovagina-creating technique on the basis of a fasciocutaneous flap for Müllerian agenesis.
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Journal of medical case reportsSatisfactory Outcome of Various Novel Modified Laparoscopic Neovaginoplasty Using Autologous Peritoneal Graft.
Gynecology and minimally invasive therapyClinical features and management of women with Mayer-Rokitansky-Küster-Hauser syndrome in a Thai population.
Obstetrics & gynecology scienceLiving-Donor Uterus Transplantation: A Clinical Review.
Journal of clinical medicineNeodymium Laser Treatment for Overactive Bladder and Vulvodynia in Mayer-Rokitansky-Küster-Hauser Syndrome Patient: A Case Report.
CureusA Cohort of 469 Mayer-Rokitansky-Küster-Hauser Syndrome Patients-Associated Malformations, Syndromes, and Heterogeneity of the Phenotype.
Journal of clinical medicineHistological Features of Neovaginal Epithelium after Vaginoplasty in Mayer-Rokitansky-Küster-Hauser Syndrome.
Journal of pediatric and adolescent gynecologyLaparoscopic 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 nursingPreventive Practices and Knowledge of Human Papillomavirus in Mayer-Rokitansky-Küster-Hauser Syndrome Individuals.
Sexually transmitted diseasesThree-year follow-up results of two children born from a transplanted uterus.
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, CzechoslovakiaWharton-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 reproductionSuccessful Use of Acellular Small Intestinal Submucosa Graft in Vaginal Reconstruction.
Journal of pediatric surgeryLive Birth from Cryopreserved Oocyte After Uterus Transplantation: A Case Report.
The American journal of case reportsLong term sexual outcomes of Mayer Rokitansky Küster Hauser Syndrome patients after Uncu-modified Davydov procedure.
Facts, views & vision in ObGynA 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 gynecologyLack of evidence that progesterone in ovulatory cycles causes breast cancer.
Climacteric : the journal of the International Menopause SocietyHuge Leiomyomas Arising from Bilateral Uterine Remnants in a Mayer-Rokitansky-Küster-Hauser Syndrome Patient with Coexisting Myotonic Dystrophy Type 1: A Case Report and Literature Review.
Case reports in obstetrics and gynecologyRetracted: An Association between EMX2 Variations and Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study of Chinese Women.
Journal of healthcare engineeringCustomised Vaginal Stent-The Phases in Management of Vaginal Agenesis in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome.
Journal of family & reproductive healthPosterior sagittal anorecto-urethro-vagino-plasty in the late period was associated with the long-term bowel function in patients with persistent cloaca: results of a nationwide survey in Japan.
Pediatric surgery internationalImaging of Uterine Transplantation.
Radiologic clinics of North AmericaSigmoid neovagina prolapse treated with Altemeier procedure: case report and systematic review of the literature.
International urogynecology journalThe clinical features of patients who underwent bladder augmentation of cloacal exstrophy and their functional outcomes: the results of a nationwide survey in Japan.
Pediatric surgery internationalComparing Anatomical and Functional Outcomes of Two Neovaginoplasty Techniques for Mayer-Rokitansky-Küster-Hauser Syndrome: A Ten-Year Retrospective Study with Swine Small Intestinal Submucosa and Homologous Skin Grafts.
Therapeutics and clinical risk managementSurgical Correction of Vaginal Agenesis via Modified Laparoscopic Vecchietti Procedure.
Journal of pediatric and adolescent gynecologyAtypical form of Mayer-Rokitansky-Küster-Hauser syndrome: A case report.
Radiology case reportsMayer-Rokitansky-Küster-Hauser syndrome with idiopathic central precocious puberty: a case report.
Translational pediatricsEvaluation of Sexual Function Outcomes in Patients with Rokitansky Syndrome: A Systematic Review and Meta-analysis.
Journal of minimally invasive gynecologyFirst uterine transplant case at the Royal Prince Alfred Hospital.
The Australian & New Zealand journal of obstetrics & gynaecologyParaparesis and congenital severe hyperkyphosis in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A rare deformity management during the Sars-Cov-2 pandemic.
Brain & spineA Female Infant with Rectovestibular Fistula and Imperforate Hymen.
Journal of Indian Association of Pediatric SurgeonsNeovaginoplasty 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 advancesA rare case report of vaginoplasty using amnion graft in an Afghan woman with Mayer-Rokitansky-Küster-Hauser syndrome: A first report in Afghanistan.
International journal of surgery case reports3-year-old with Mayer-Rokitansky-Küster-Hauser syndrome and anorectal malformation: A case report.
International journal of surgery case reportsAtypical Mayer-Rokitansky-Küster-Hauser Syndrome with Bilateral Inguinal Hernia of Adnexa-Laparoscopic Transabdominal Preperitoneal Repair with Ovarian Plication.
Journal of minimally invasive gynecology[Uterine transplantation, ethical and social aspects].
Gynecologie, obstetrique, fertilite & senologieA life course perspective on Mayer-Rokitansky-Küster-Hauser syndrome: women's experiences and negotiations of living with an underdeveloped uterus and vagina.
Disability and rehabilitation'Distraction Vaginogenesis': Preliminary Results Using a Novel Method for Vaginal Canal Expansion in Rats.
Bioengineering (Basel, Switzerland)Mayer-Rokitansky-Kuster-Hauser syndrome type II with crossed fused renal ectopia: A rare case report.
Radiology case reportsMayer-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 researchManagement 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 reportsClinical features of patients who underwent anoplasty for cloacal exstrophy and their functional outcomes: the results of a nationwide survey in Japan.
Pediatric surgery internationalHernia uterine inguinale associated with Mayer-Rokitansky-Küster-Hauser syndrome: Three case reports and literature review.
MedicineAnalysis of the potential risk factors for defecation problems and their bowel management based on the long-term bowel function in patients with persistent cloaca: results of a nationwide survey in Japan.
Pediatric surgery internationalEvaluation of Post-Menopausal Bleeding in Two Patients with Sigmoid Neovaginoplasty.
CRSLS : MIS case reports from SLSThe 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 portuguesaOestrogen-induced epithelial-mesenchymal transition (EMT) in endometriosis: Aetiology of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
Frontiers in physiologyAssessing 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 medicineUnusual combination of acute aortic dissection, Mayer-Rokitansky-Küster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report.
Frontiers in cardiovascular medicineEndometriosis in Patients with Mayer-Rokitansky-Küster-Hauser-Syndrome-Histological Evaluation of Uterus Remnants and Peritoneal Lesions and Comparison to Samples from Endometriosis Patients without Mullerian Anomaly.
Journal of clinical medicineUterine allograft removal by total laparoscopic hysterectomy after successful cesarean delivery in a living-donor uterus recipient with uterovaginal agenesis (MRKHS).
Archives of gynecology and obstetricsRetrospective comparative cohort study of neovagina creation by modified Vecchietti-laparoendoscopic single-site surgery for Mayer-Rokitansky-Küster-Hauser syndrome.
Annals of translational medicineCoexistence of Micro-Prolactinoma and Mayer-Rokitansky-Küster-Hauser Syndrome- A Rare Association.
Indian journal of endocrinology and metabolismFunctional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.
Human molecular geneticsMayer-Rokitansky-Kuster-Hauser Syndrome: A rare case report from Nepal.
Annals of medicine and surgery (2012)Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser Syndrome.
Journal of clinical medicineThree-dimensional Printer Molds for Vaginal Agenesis: An Individualized Approach as Conservative Treatment.
Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e ObstetriciaImportance 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 gynecology'It was Supposed to be a Secret': a study of disclosure and stigma as experienced by adults with differences of sex development.
Health psychology and behavioral medicineBalloon vaginoplasty as a minimally invasive method in the management of vaginal aplasia.
Ceska gynekologiePrimary Amenorrhea with Apparently Absent Uterus: A Report of Three Cases.
Journal of clinical medicinemiR-126-3p-loaded small extracellular vesicles secreted by urine-derived stem cells released from a phototriggered imine crosslink hydrogel could enhance vaginal epithelization after vaginoplasty.
Stem cell research & therapyRenal 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 pediatricsA multi-institutional study of renal outcomes and renal-related pregnancy outcomes in uterus transplant recipients.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant SurgeonsTissue Engineering Neovagina for Vaginoplasty in Mayer-Rokitansky-Küster-Hauser Syndrome and Gender Dysphoria Patients: A Systematic Review.
Tissue engineering. Part B, ReviewsThe First 5 Years of Uterus Transplant in the US: A Report From the United States Uterus Transplant Consortium.
JAMA surgeryPostoperative outcomes of sigmoid colon vaginoplasty for vaginal agenesis: A randomized controlled trial.
Annals of medicine and surgery (2012)Urinary retention unveiling deeply embedded multiple leiomyomas in women with Mayer-Rokitansky-Kuster-Hauser syndrome and its successful laparoscopic management: a case-report and literature review.
Journal of surgical case reportsAttitudes toward fertility-related care and education of adolescents and young adults with differences of sex development: Informing future care models.
Journal of pediatric urologyLaparoscopic 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 PsychologieAssociações
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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).
- Preoperative Considerations for Uterine Fibroid Removal in Patients With Mayer-Rokitansky-Küster-Hauser Syndrome and Klippel-Feil Syndrome: A Case Report.
- A rare case of Mayer-Rokitansky-Küster-Hauser syndrome presenting with primary amenorrhea and chronic headaches: a case report.
- Laparoscopic Davydov Neovagina Creation in Mayer-Rokitansky-Küster-Hauser Syndrome with Pancake Kidney and a Solitary Ureter Using Dual Indocyanine Green Fluorescence Guidance.
- A Cognitive Behavioural Therapy for Mayer-Rokitansky-Küster-Hauser Syndrome Adapted for Other Disorders of Sex Development: A Qualitative Study.
- Mayer-Rokitansky-Küster-Hauser Syndrome Associated With Diabetes Mellitus and Renal Anomalies in an Adolescent Girl: A Rare Case Report.
- Regarding "Combined Vaginal and Laparoscopic Approach for the Creation of Neovagina in a Patient Affected by Mayer-Rokitansky-Küster-Hauser Syndrome: An Innovative Surgical Treatment".
- Functional and anatomical results following combined vaginal and laparoscopic approach for the creation of neovagina in a patient affected by Mayer-Rokitansky-Küster-Hauser syndrome.
- Anesthetic challenges of the first successful living-donor uterus transplantation in Latin America: a case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3109(Orphanet)
- MONDO:0017771(MONDO)
- GARD:5445(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1473749(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
