Clinical and Imaging Features in MRKH Syndrome (ROK-US)

Mayer Rokitansky Kuster Hauser (MRKH) Syndrome: A Monocentric Ambispective Study on Clinical and Ultrasound Findings and Novel Imaging-Based Classification

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Mayer Rokitansky Kuster Hauser Syndrome; Müllerian Agenesis

• Study Type: Observational
• Enrollment (Estimated): 25

Contacts and Locations

• Study Contact: Name: Antonia Carla Testa; Phone Number: +390630155701; Email: antoniacarla.testa@policlinicogemelli.it

Study Locations

• Italy
  • Roma, Italy, 00168
    • Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	Baseline (at enrollment)

Collaborators and Investigators

• Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
• Investigators: Principal Investigator: Antonia Carla Testa, Fondazione Policlinico Universitario A. Gemelli, IRCCS

Study record dates

Study Major Dates

• Study Start (Estimated): January 12, 2026
• Primary Completion (Estimated): September 30, 2026
• Study Completion (Estimated): January 31, 2027

Study Registration Dates

• First Submitted: December 22, 2025
• First Submitted That Met QC Criteria: December 22, 2025
• First Posted (Actual): January 7, 2026

Study Record Updates

• Last Update Posted (Actual): January 7, 2026
• Last Update Submitted That Met QC Criteria: December 22, 2025
• Last Verified: December 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Mullerian aplasia
• Other Study ID Numbers: 8153

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No