An observational study in Mayer Rokitansky Kuster Hauser Syndrome and Müllerian Agenesis, sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS. Not yet recruiting at 1 site in Italy. Open to female participants aged 10 Years to 60 Years. Per ClinicalTrials.gov, last updated 2026-01-07.
Sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Observational
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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.
This 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.
The 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.
20 studies on the registry are indexed under Mullerian aplasia; 11 are open to participants now.
Browse Mullerian aplasia studies →Fondazione Policlinico Universitario Agostino Gemelli IRCCS is the lead sponsor of 952 studies on the registry; 541 are open to participants now.
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The study will include female patients aged 10 to 60 years with suspected or previously diagnosed Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, confirmed by a 46,XX karyotype. Both retrospective and prospective patients referred to the 'Female Genital Tract Anomalies' outpatient clinic at the Department of Obstetrics and Gynecology, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy, will be included. Prospective participants will provide informed consent (or parental/guardian consent for minors). Retrospective participants will be included based on previously collected data in compliance with data protection regulations. Patients with other causes of primary amenorrhea or non-46,XX karyotype will be excluded.
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Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Clinical and ultrasonographic characterization of MRKH syndrome
Description of clinical features and standardized ultrasound findings in patients with Mayer-Rokitansky-Küster-Hauser syndrome, including presence and morphology of uterine remnants, vaginal length, ovarian position and morphology, and associated pelvic or renal anomalies, assessed by transabdominal and transrectal ultrasound.
Time frame: Baseline (at enrollment)
Start is estimated for Jan 2026; primary completion for Sep 2026, 8 months later.
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