Clinical and Imaging Features in MRKH Syndrome
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Mayer Rokitansky Kuster Hauser Syndrome, Müllerian Agenesis. Basic parameters: 10 years — 60 years · Female.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Mayer Rokitansky Kuster Hauser (MRKH) Syndrome: A Monocentric Ambispective Study on Clinical and Ultrasound Findings and Novel Imaging-Based Classification
Overview
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.
Primary outcome measures
- Clinical and ultrasonographic characterization of MRKH syndrome [Time frame: Baseline (at enrollment)]
Eligibility criteria
Inclusion criteria
- Female patients with suspected or previously diagnosed MRKH syndrome
- 46,XX karyotype
- Age 10-60 years
- For prospective patients: signed Informed Consent and Consent to Data Processing (by patient or parent/guardian if minor)
- For retrospective patients: availability of data collected in compliance with Data Protection regulations (DPIA conducted)
Exclusion criteria
- Patients with other causes of primary amenorrhea (e.g., Androgen Insensitivity Syndrome / Morris syndrome)
- Karyotype different from 46,XX
- For prospective patients: inability to provide informed consent or parental/guardian consent if minor
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Italy · 1 center
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS — Roma
Identifiers
NCT: NCT07321782 · 8153