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Clinical Trials in Italy / NCT07321782
Starting soon Observational

Clinical and Imaging Features in MRKH Syndrome

NCT07321782 · tracked via the Priya Life Science Italy tracker
Sponsor
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Phase
Observational
Started
2026-01-12
Last updated
2026-01-07

Condition(s) studied

Mayer Rokitansky Kuster Hauser SyndromeMüllerian Agenesis

Study summary

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.

Eligibility

Sex
FEMALE
Min age
10 Years
Max age
60 Years
Healthy volunteers
No
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

Primary outcome measure(s)

  • Clinical and ultrasonographic characterization of MRKH syndrome — Baseline (at enrollment)
    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.

Trial sites (1)

FacilityCityRegionStatus
Fondazione Policlinico Universitario Agostino Gemelli IRCCS Roma Italy

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07321782 on ClinicalTrials.gov ↗ ← All trials in Italy