Home › Trials › NCT06723938
Clinical trial Recruiting at 1 site Observational Ages Any age to 18

Characterization of patients with 46, XY Disorders of Sex Development

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

Run by IRCCS Azienda Ospedaliero-Universitaria di Bologna · NCT06723938 · Data updated 2026-11-12

This study looks at young patients with 46, XY Disorders of Sex Development to gather information about their health and genetics to better understand their condition.

More 46, XY DSD trials

Quick facts

Study typeObservational
AgesAny age to 18 Years
SexAll
Enrollment520 (estimated)
SponsorIRCCS Azienda Ospedaliero-Universitaria di Bologna
Academic / other
Locations4 sites (Bologna, Bologna and 3 other locations)
StatusRecruiting
StartedJune 15, 2021
Main results expectedJune 15, 2027
Study endsJune 15, 2027
Registry record updatedMarch 12, 2026
Trial IDNCT06723938 on ClinicalTrials.gov

Is this trial a fit for you?

Likely a good fit

Ideal candidates for this study are pediatric and adolescent patients diagnosed with 46, XY DSD who are under 18 years of age.

Probably not a fit

Patients with a karyotype other than 46, XY DSD will not benefit from this study.

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study explores a cohort of pediatric and adolescent patients diagnosed with 46, XY Disorders of Sex Development (DSD) across multiple centers in Italy. It aims to collect and analyze clinical, biochemical, instrumental, and genetic data to better understand the phenotypic, hormonal, and genetic characteristics of these patients. The study will also assess the correlation between molecular diagnoses and external masculinization scores, as well as evaluate the diagnostic rate over the reporting period. The research is coordinated by the IRCCS Azienda Ospedaliero-Universitaria of Bologna.

Why it matters

Potential benefit: If successful, this study could enhance the understanding and management of 46, XY DSD, leading to improved patient outcomes.

How similar studies have gone: While there have been studies on DSD, this multicenter approach focusing on a large cohort is relatively novel.

Who can join: the full rules

Show full inclusion / exclusion criteria 
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.

Where it's running

  • IRCCS Azienda Ospedaliero-Universitaria di Bologna
    Bologna, Bologna, Italy     Recruiting
  • IRCCS Ospedale San Raffaele
    Milan, Milano, Italy     Not yet recruiting
  • Azienda Ospedaliero Universitaria Pisana
    Pisa, Pisa, Italy     Not yet recruiting
  • Ospedale Pediatrico Bambino Gesù
    Roma, Roma, Italy     Not yet recruiting

Study contacts

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov ↗ Find more trials like this →
Browse more
46, XY DSD 2IRCCS Azienda Ospedaliero-Universitaria di Bologna 219
Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.