Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients
Recruiting now
Conditions studied: 46, XY DSD
In brief
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.
Key facts
- Study ID
- NCT06723938
- Run by
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
- People needed
- 520
- Starts
- 2021-06-15
- Expected to finish
- 2027-06-15
- Last updated by the study team
- 2026-03-12
Who can join
Age: any, up to 18. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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.
You may not qualify if…
- None.
Where it is running
- IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna, Bologna, Italy (enrolling)
- IRCCS Ospedale San Raffaele — Milan, Milano, Italy
- Azienda Ospedaliero Universitaria Pisana — Pisa, Pisa, Italy
- Ospedale Pediatrico Bambino Gesù — Roma, Roma, Italy
Full record on ClinicalTrials.gov
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