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Clinical Trials in Italy / NCT06723938
Recruiting Observational

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

NCT06723938 · tracked via the Priya Life Science Italy tracker
Sponsor
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Phase
Observational
Started
2021-06-15
Last updated
2026-03-12

Condition(s) studied

46, XY DSD

Study 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

Sex
ALL
Min age
—
Max age
18 Years
Healthy volunteers
No
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.

Primary outcome measure(s)

  • Prevalence of 46,XY DSD patients — 4 years after the start of enrollment
    number of 46,XY DSD patients referred to partecipating centres during the reporting period
  • Sex — at baseline
    sex assigned at birth, and current sex (M/F)
  • EMS/EGS (External Masculinization Score ed ExternalGenital Score) — at baseline
    presence/absence of micropenis, bifid scrotum, urethral meatus position, testicles position, genital tubercle, mullerian residues
  • Age of onset of genital ambiguity signs — at baseline
    years, months

Trial sites (4)

FacilityCityRegionStatus
IRCCS Azienda Ospedaliero-Universitaria di Bologna Bologna Bologna Recruiting
IRCCS Ospedale San Raffaele Milan Milano Not Yet Recruiting
Azienda Ospedaliero Universitaria Pisana Pisa Pisa Not Yet Recruiting
Ospedale Pediatrico Bambino Gesù Roma Roma Not Yet Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06723938 on ClinicalTrials.gov ↗ ← All trials in Italy