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Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients

Recruitingn/aAges any - 18 YearsAllIRCCS Azienda Ospedaliero-Universitaria di Bologna
NCT06723938 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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 other participating centres since 01/01/2000; * Obtaining informed consent from patients or from parents/legal guardian of pediatric patients. Exclusion Criteria: • None.
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What it tests

  • Not listed
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Where

4 sites
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Italy
IRCCS Ospedale San Raffaele
Milan, Italy
Azienda Ospedaliero Universitaria Pisana
Pisa, Italy
Ospedale Pediatrico Bambino Gesù
Roma, Italy
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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