Characterization of patients with 46, XY Disorders of Sex Development
Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients
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.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 520 (estimated) |
| Ages | N/A to 18 Years |
| Sex | All |
| Sponsor | IRCCS Azienda Ospedaliero-Universitaria di Bologna Academic / other |
| Locations | 4 sites (Bologna, Bologna and 3 other locations) |
| Trial ID | NCT06723938 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are pediatric and adolescent patients diagnosed with 46, XY DSD who are under 18 years of age.
Not a fit: Patients with a karyotype other than 46, XY DSD will not benefit from this study.
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 performed: While there have been studies on DSD, this multicenter approach focusing on a large cohort is relatively novel.
Eligibility criteria
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 this trial is running
Bologna, Bologna and 3 other locations
- 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
- Principal investigator: Federico Baronio, MD — IRCCS Azienda Ospedaliero-Universitaria di Bologna
- Study coordinator: Federico Baronio
- Email: federico.baronio@aosp.bo.it
- Phone: 00390512144816
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.