Actively Recruiting
Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients
Led by IRCCS Azienda Ospedaliero-Universitaria di Bologna · Updated on 2026-03-12
520
Participants Needed
4
Research Sites
313 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Karyotype 46,XY DSD
- Presence of genital ambiguity signs based on clinical phenotype and EMS/EGS score
- Age under 18 years at diagnosis of 46,XY DSD
- Patient referred to IRCCS Azienda Ospedaliero-Universitaria di Bologna since 01/01/1991 or to other participating centers since 01/01/2000
- Informed consent obtained from patient or parent/legal guardian
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
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Trial Site Locations
Total: 4 locations
1
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, Italy, 40138
Actively Recruiting
2
IRCCS Ospedale San Raffaele
Milan, Milano, Italy, 20132
Not Yet Recruiting
3
Azienda Ospedaliero Universitaria Pisana
Pisa, Pisa, Italy, 56126
Not Yet Recruiting
4
Ospedale Pediatrico Bambino Gesù
Roma, Roma, Italy, 00165
Not Yet Recruiting
Research Team
F
Federico Baronio
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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