Útero duplo, hemivagina e agenesia renal é uma anomalia urogenital congênita rara caracterizada pela presença de útero duplo (didelfo, bicorno ou septo completo ou parcial), obstrução cérvico-vaginal unilateral (obstruída hemivagina-comunicante, não comunicante ou septada e atresia cervical unilateral) e anomalias renais ipsilaterais (agenesia renal e/ou outras anomalias do trato urinário). Os pacientes geralmente são diagnosticados na puberdade após a menarca devido a dismenorreia grave recorrente, dor pélvica crônica, corrimento mucopurulento excessivo e fétido, spotting e sangramento intermenstrual (dependendo da existência de comunicações uterinas ou vaginais). febre, dispareunia e massa abdominal, pélvica ou vaginal palpável (mucocolpos ou piocolpos) também podem estar presentes.
Introdução
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Útero duplo, hemivagina e agenesia renal é uma anomalia urogenital congênita rara caracterizada pela presença de útero duplo (didelfo, bicorno ou septo completo ou parcial), obstrução cérvico-vaginal unilateral (obstruída hemivagina-comunicante, não comunicante ou septada e atresia cervical unilateral) e anomalias renais ipsilaterais (agenesia renal e/ou outras anomalias do trato urinário). Os pacientes geralmente são diagnosticados na puberdade após a menarca devido a dismenorreia grave recorrente, dor pélvica crônica, corrimento mucopurulento excessivo e fétido, spotting e sangramento intermenstrual (dependendo da existência de comunicações uterinas ou vaginais). febre, dispareunia e massa abdominal, pélvica ou vaginal palpável (mucocolpos ou piocolpos) também podem estar presentes.
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
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 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
Nenhum gene associado encontrado
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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 de útero duplo-hemivagina-agenesia renal
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Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaDetection of digynic triploidy in a second-trimester fetus presenting syndactyly, relative macrocephaly, intrauterine growth restriction, cardiomegaly, pericardial effusion, Dandy-Walker malformation, double bubble sign and single umbilical artery on prenatal ultrasound and a false negative non-invasive prenatal testing result in the first trimester.
Taiwanese journal of obstetrics & gynecologyExploring the intersection of epigenetics, DNA repair, and immunology from studies of ICF syndrome, an inborn error of immunity.
Frontiers in immunologyCombining Double-Dose and High-Dose Pulsed Dapsone Combination Therapy for Chronic Lyme Disease/Post-Treatment Lyme Disease Syndrome and Co-Infections, Including Bartonella: A Report of 3 Cases and a Literature Review.
MicroorganismsAnamorelin for the Treatment of Cancer Anorexia-Cachexia Syndrome.
Current oncology reportsThe phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.
European journal of human genetics : EJHGSurgical treatment for recurrent patellar dislocation with severe torsional deformities: Double-level derotational osteotomy may not have a clear advantage over single-level derotational osteotomy in improving clinical and radiological outcomes.
Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKAMetabolic Status Influences Probiotic Efficacy for Depression-PRO-DEMET Randomized Clinical Trial Results.
NutrientsClinical implications of dextrocardia based on four visceroatrial situs studies.
Pediatrics and neonatologyInterferon-gamma contributes to disease progression in the Ndufs4(-/-) model of Leigh syndrome.
Neuropathology and applied neurobiologyA randomized double-blind, placebo-controlled trial to evaluate the safety and efficacy of live Bifidobacterium longum CECT 7347 (ES1) and heat-treated Bifidobacterium longum CECT 7347 (HT-ES1) in participants with diarrhea-predominant irritable bowel syndrome.
Gut microbesY chromosome damage underlies testicular abnormalities in ATR-X syndrome.
iScienceA Review of the Repair of DNA Double Strand Breaks in the Development of Oral Cancer.
International journal of molecular sciencesHeterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.
Molecular and cellular endocrinologyPrenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.
Prenatal diagnosisSingle dominant lesion in capillary malformation-arteriovenous malformation (CM-AVM) RASA1 syndrome.
Pediatric dermatologyLambda-double-fixation for medial epicanthoplasty in Blepharophimosis - Ptosis - Epicanthus Inversus Syndrome.
Orbit (Amsterdam, Netherlands)Double Mesiodens in the Mixed Dentition of Non-syndromic North-Indian Patients: A Case Series.
CureusPhase 2 study of the efficacy and safety of ponsegromab in patients with cancer cachexia: PROACC-1 study design.
Journal of cachexia, sarcopenia and muscleThe bidirectional relationship of depression and disturbances in B cell homeostasis: Double trouble.
Progress in neuro-psychopharmacology & biological psychiatryGiant coronary sinus aneurysm: an incidental discovery in a case of acute coronary syndrome.
BMJ case reportsTonghua Liyan granules in the treatment of Laryngopharyngeal reflux disease with stagnation of phlegm and qi syndrome: a randomized, double-blind, placebo-controlled study.
Frontiers in pharmacologyCD19-CAR-DNT cells (RJMty19) in patients with relapsed or refractory large B-cell lymphoma: a phase 1, first-in-human study.
EClinicalMedicineTRPS1 modulates chromatin accessibility to regulate estrogen receptor alpha (ER) binding and ER target gene expression in luminal breast cancer cells.
PLoS geneticsOcular motor and vestibular dysfunction in central nervous system lymphoma.
European journal of neurologyMetabolic Abnormalities Following Tirzepatide Monotherapy in Japanese Patients with Type 2 Diabetes: A Phase 3 SURPASS J-mono Post Hoc Analysis.
Diabetes therapy : research, treatment and education of diabetes and related disordersCase report: Twice-daily tolvaptan dosing regimen in a challenging case of hyponatremia due to SIAD.
Frontiers in endocrinologyInnate Immune Activation and Mitochondrial ROS Invoke Persistent Cardiac Conduction System Dysfunction after COVID-19.
bioRxiv : the preprint server for biologySingle variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.
Life science allianceAnatomical and physiological diagnostic discrepancies in fetuses with single-ventricle congenital heart disease in a contemporary cohort.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology[Clinical characteristics and genetic counseling for a three-generation Chinese pedigree with recurrent fetal Kabuki syndrome due to variant of KDM6A gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsUnmet needs in epileptic encephalopathy with spike-and-wave activation in sleep: A systematic review.
Epilepsy researchLong-Term Bowel Vaginoplasty With a Single Yang-Monti Tube.
Urology practiceCase Report: Imaging features of a new type double inferior vena cava malformation and review.
Frontiers in cardiovascular medicineCannabidiol versus placebo as adjunctive treatment in early psychosis: study protocol for randomized controlled trial.
TrialsNano-curcumin effects on nicotine dependence, depression, anxiety and metabolic parameters in smokers: A randomized double-blind clinical study.
HeliyonAGE AND GENDER-SPECIFIC FEATURES OF CYTOGENETIC CHANGES IN BUCCAL EPITHELIUM IN INDIVIDUALS RESIDING IN THE «SICK BUILDING».
Wiadomosci lekarskie (Warsaw, Poland : 1960)Question Mark Ear: An Unusual Anomaly and a Novel Surgical Technique for Reconstruction.
The Journal of craniofacial surgeryGlomerular lipidosis as a feature of renal-limited macrophage activation syndrome in a transplanted kidney: a case report.
BMC nephrologyMesencephalic trigeminal nucleus neurons with collaterals to both eyelid and masseter muscles shown by fluorescent double-labeling, revealing a potential mechanism for Marcus Gunn Syndrome.
PloS oneCardiovascular anomalies in patients with Tessier syndrome: a systematic review.
European journal of pediatricsUnstable angina as a result of coronary steal syndrome due to escape flow from a double large coronary-pulmonary artery fistula.
Acta cardiologicaLower Socioeconomic Status is Associated with an Increased Incidence and Spectrum of Major Congenital Heart Disease and Associated Extracardiac Pathology.
Pediatric cardiologyDiverse ultrasound image features of unilateral genital tract obstruction with ipsilateral renal anomaly syndrome on genitourinary system segmental sequential ultrasound screening and the accuracy of ultrasonic diagnosis.
Quantitative imaging in medicine and surgery[Ascher syndrome: More than just a lip disorder].
SemergenAn Interesting Case of Dengue Encephalitis With Parkinsonism Sequela.
CureusExperimental study on physical exercise in diabetes: pathophysiology and therapeutic effects.
European journal of translational myologyMyelodysplastic Syndrome After Anti-CD19 Chimeric Antigen Receptor T-cell Therapy: A Case Series.
CureusHerlyn-Werner-Wunderlich syndrome: A fertility-sparing approach to a rare mullerian anomaly.
JBRA assisted reproductionAssociation of per- and polyfluoroalkyl substances with hepatic steatosis and metabolic dysfunction-associated fatty liver disease among patients with acute coronary syndrome.
Ecotoxicology and environmental safetyMammalian DNA ligases; roles in maintaining genome integrity.
Journal of molecular biologyAntiviral efficacy of RAY1216 monotherapy and combination therapy with ritonavir in patients with COVID-19: a phase 2, single centre, randomised, double-blind, placebo-controlled trial.
EClinicalMedicineShort- and mid-term outcomes of multisystem inflammatory syndrome in children: a longitudinal prospective single-center cohort study.
Frontiers in pediatricsSevere RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features.
Journal of clinical immunologyClinical outcomes of vanishing twin syndrome and selective fetal reduction after double embryos transferred in IVF pregnancy: A propensity score matching study.
European journal of obstetrics, gynecology, and reproductive biologyInactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.
Human geneticsDouble nutcracker syndrome in a patient with circumaortic venous ring: a rare case report.
Journal of ultrasonographyThe effect of Ding-kun-dan comparing with Marvelon on primary dysmenorrhea: A prospective, double-blind, multicenter, randomized controlled trial.
Journal of ethnopharmacologyCase Report: Incidental finding of Zinner syndrome in an asymptomatic 53-year-old Palestinian male.
Frontiers in urologyPrenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.
Molecular genetics & genomic medicineCharacterization of ultrasound and postnatal pathology in fetuses with heterotaxy syndrome.
Frontiers in cardiovascular medicineAssociações
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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.
- Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Goutières syndrome-like encephalopathy.
- Collectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41774788mais citado
- A Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41719335mais citado
- Double Jeopardy - A Case of Overlapping Takotsubo Syndrome and Spontaneous Coronary Dissection.Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)· 2026· PMID 41863107mais citado
- Outcomes of Heart Transplantation in Single-Ventricle Physiology: A Retrospective Single-Center Experience with Emphasis on Surgical Complexity.
- Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
- The Human Phenotype Ontology in 2024: phenotypes around the world.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3411(Orphanet)
- OMIM OMIM:192050(OMIM)
- MONDO:0008636(MONDO)
- GARD:1910(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q28439901(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.
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