RecruitingNCT06723938
Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients
Sponsor
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Enrollment
520 participants
Start Date
Jun 15, 2021
Study Type
OBSERVATIONAL
Conditions
Summary
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.
Eligibility
Max Age: 18 Years
Inclusion Criteria5
- 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 Criteria1
- None.
Interested in this trial?
Get notified about updates and connect with the research team.
Locations(4)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT06723938