Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients
Recruiting
Observational Study
46, XY DSD
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- Up to 18
- Sex
- Any
- Study type
- Observational
- Participants needed
- 520 (estimated)
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna · Other
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About This Trial
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.
Trial Locations
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Eligibility 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 oth…
Contacts