[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"mllerian-agenesis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:mllerian-agenesis":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":23,"studyType":24,"phases":4,"briefSummary":25,"conditions":26,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":5},"100617681","clinical-and-imaging-features-in-mrkh-syndrome-100617681",false,"NCT07321782","Clinical and Imaging Features in MRKH Syndrome","Mayer Rokitansky Kuster Hauser (MRKH) Syndrome: A Monocentric Ambispective Study on Clinical and Ultrasound Findings and Novel Imaging-Based Classification","ROK-US","Inclusion Criteria\n\n* Female patients with suspected or previously diagnosed MRKH syndrome\n* 46,XX karyotype\n* Age 10-60 years\n* For prospective patients: signed Informed Consent and Consent to Data Processing (by patient or parent\u002Fguardian if minor)\n* For retrospective patients: availability of data collected in compliance with Data Protection regulations (DPIA conducted)\n\nExclusion Criteria\n\n* Patients with other causes of primary amenorrhea (e.g., Androgen Insensitivity Syndrome \u002F Morris syndrome)\n* Karyotype different from 46,XX\n* For prospective patients: inability to provide informed consent or parental\u002Fguardian consent if minor","FEMALE","10 Years","60 Years",{"count":21,"type":22},25,"ESTIMATED","12 Months","OBSERVATIONAL","Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterized by uterovaginal agenesis in phenotypically normal women with a 46,XX karyotype. Despite increasing knowledge of its clinical and genetic features, MRKH syndrome shows marked phenotypic heterogeneity, and current classification systems do not fully reflect the wide spectrum of anatomical presentations encountered in clinical practice.\n\nThis ambispective, observational, monocenter study aims to describe the clinical, sonographic, radiological, and genetic characteristics of patients with suspected or confirmed MRKH syndrome referred to a tertiary referral center. All enrolled patients will undergo standardized pelvic ultrasound evaluation, including transabdominal and transrectal approaches, with optional MRI according to clinical indications. Sonovaginography will be performed to objectively assess vaginal length. Genetic investigations, including array CGH and next-generation sequencing, will be conducted as part of routine clinical care.\n\nThe primary objective is to characterize the clinical and ultrasound features of MRKH syndrome. Secondary objectives include the development of a novel image-based classification system to better describe disease severity and morphological patterns, validation of sonovaginography for vaginal length measurement, and correlation of genetic alterations with ultrasound-based staging. The study aims to improve diagnostic standardization and contribute to a better understanding of the genotype-phenotype relationship in MRKH syndrome.",[27,28],"Mayer Rokitansky Kuster Hauser Syndrome","Müllerian Agenesis","NOT_YET_RECRUITING","2025-12-22",{"date":32,"type":33},"2026-01-07","ACTUAL",{"date":35,"type":22},"2026-01-12",{"date":37,"type":22},"2027-01-31",{"name":39,"class":40},"Fondazione Policlinico Universitario Agostino Gemelli IRCCS","OTHER"]