Clinical and Imaging Features in MRKH Syndrome

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

Status

Not yet recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07321782

Acronym

ROK-US

Enrollment

Registered

2026-01-07

Start date

2026-01-12

Completion date

2027-01-31

Last updated

2026-01-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Mayer Rokitansky Kuster Hauser Syndrome, Müllerian Agenesis

Brief 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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

OTHER

Eligibility

Sex/Gender

FEMALE

Age

10 Years to 60 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
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.

Countries

Italy

Contacts

Primary ContactAntonia Carla Testa

antoniacarla.testa@policlinicogemelli.it+390630155701

Outcome results