Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients
NCT ID: NCT06723938
Last Updated: 2024-12-09
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
520 participants
OBSERVATIONAL
2021-06-15
2025-06-15
Brief Summary
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Detailed Description
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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.
Conditions
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Keywords
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Study Design
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COHORT
OTHER
Eligibility Criteria
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Inclusion Criteria
* 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
18 Years
ALL
No
Sponsors
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IRCCS Azienda Ospedaliero-Universitaria di Bologna
OTHER
Responsible Party
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Principal Investigators
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Federico Baronio, MD
Role: PRINCIPAL_INVESTIGATOR
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Locations
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IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, Italy
IRCCS Ospedale San Raffaele
Milan, Milano, Italy
Azienda Ospedaliero Universitaria Pisana
Pisa, Pisa, Italy
Ospedale Pediatrico Bambino Gesù
Roma, Roma, Italy
Countries
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Central Contacts
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Facility Contacts
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Federico Baronio
Role: primary
Federico Baronio
Role: backup
Marianna Rita Stancampiano
Role: primary
Marianna Rita Stancampiano
Role: backup
Nina Tyutyusheva
Role: primary
Nina Tyutyusheva
Role: backup
Carla Bizzarri
Role: primary
Carla Bizzarri
Role: backup
Other Identifiers
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DSDPed
Identifier Type: -
Identifier Source: org_study_id