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Clinical and Imaging Features in MRKH Syndrome

NCT07321782 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 25

Last updated 2026-01-07

No results posted yet for this 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.

Conditions

  • Mayer Rokitansky Kuster Hauser Syndrome
  • Müllerian Agenesis

Sponsors & Collaborators

  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS

    lead OTHER

Principal Investigators

  • Antonia Carla Testa · Fondazione Policlinico Universitario A. Gemelli, IRCCS

Eligibility

Min Age
10 Years
Max Age
60 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-01-12
Primary Completion
2026-09-30
Completion
2027-01-31

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07321782 on ClinicalTrials.gov