Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients

March 11, 2026 updated by: Federico Baronio, IRCCS Azienda Ospedaliero-Universitaria di Bologna
Observational exploratory study of a cohort of pediatric and adolescent patients diagnosed with DSD karyotype 46,XY, a rare congenital clinical condition characterized by a disharmonic development between chromosomal sex, gonadal sex and/or phenotypic sex.

Study Overview

Status

Recruiting

Conditions

Detailed Description

Observational, retro-prospective, exploratory, multicentre study coordinate by the IRCCS Azienda Ospedaliero-Universitaria of Bologna, Italy.

The study consists of the collection and analysis of clinical, biochemical, instrumental and genetic data on pediatric and adolescent patients referred to partecipating centres in a given period with a diagnosis of 46,XY Disorders of Sex Development (DSD).

The primary aim of the study is to assess the number of 46,XY DSD patients referred to partecipating centres, describing the phenotypic, hormonal and genetic characterisation.

The secondary aims are to assess the correlation between molecular diagnosis and EMS/EGS score (External Masculinization Score ed ExternalGenital Score) and to evaluate the diagnostic rate over the reporting period.

Study Type

Observational

Enrollment (Estimated)

520

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Italy
    • Bologna
      • Bologna, Bologna, Italy, 40138
        • Recruiting
        • IRCCS Azienda Ospedaliero-Universitaria di Bologna
        • Contact:
        • Principal Investigator:
          • Federico Baronio
    • Milano
      • Milan, Milano, Italy, 20132
        • Not yet recruiting
        • IRCCS Ospedale San Raffaele
        • Contact:
        • Principal Investigator:
          • Marianna Rita Stancampiano
    • Pisa
      • Pisa, Pisa, Italy, 56126
        • Not yet recruiting
        • Azienda Ospedaliero Universitaria Pisana
        • Contact:
        • Principal Investigator:
          • Nina Tyutyusheva
    • Roma
      • Roma, Roma, Italy, 00165
        • Not yet recruiting
        • Ospedale Pediatrico Bambino Gesu
        • Contact:
        • Principal Investigator:
          • Carla Bizzarri

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients aged < 18 years at diagnosis of 46,XY DSD who referred to the IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy, since 01/01/1991 or to other participating italian centres since 01/01/2000.

Description

Inclusion Criteria:

  • Karyotype 46,XY DSD;
  • Genital ambiguity signs assessed on the basis of clinical phenotype and EMS/EGS for karyotype 46,XY DSD;
  • Age < 18 years at diagnosis of 46,XY DSD;
  • Patients referred to the IRCCS Azienda Ospedaliero-Universitaria di Bologna since 01/01/1991 or to other participating centres since 01/01/2000;
  • Obtaining informed consent from patients or from parents/legal guardian of pediatric patients.

Exclusion Criteria:

• None.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Prevalence of 46,XY DSD patients
Time Frame: 4 years after the start of enrollment
number of 46,XY DSD patients referred to partecipating centres during the reporting period
4 years after the start of enrollment
Sex
Time Frame: at baseline
sex assigned at birth, and current sex (M/F)
at baseline
EMS/EGS (External Masculinization Score ed ExternalGenital Score)
Time Frame: at baseline
presence/absence of micropenis, bifid scrotum, urethral meatus position, testicles position, genital tubercle, mullerian residues
at baseline
Age of onset of genital ambiguity signs
Time Frame: at baseline
years, months
at baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Investigators

  • Principal Investigator: Federico Baronio, MD, IRCCS Azienda Ospedaliero-Universitaria di Bologna

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 15, 2021

Primary Completion (Estimated)

June 15, 2027

Study Completion (Estimated)

June 15, 2027

Study Registration Dates

First Submitted

December 3, 2024

First Submitted That Met QC Criteria

December 6, 2024

First Posted (Actual)

December 9, 2024

Study Record Updates

Last Update Posted (Actual)

March 12, 2026

Last Update Submitted That Met QC Criteria

March 11, 2026

Last Verified

December 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • DSDPed

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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