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

Recruiting

• Conditions: 46, XY DSD

• Registration Number: NCT06723938
• Lead Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna

Brief 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.

Detailed Description

Observational, retro-prospective, exploratory, multicentre study coordinate by the IRCCS Azienda Ospedaliero-Universitaria of Bologna, Italy.

The study consists of the collection and analysis of clinical, biochemical, instrumental and genetic data on pediatric and adolescent patients referred to partecipating centres in a given period with a diagnosis of 46,XY Disorders of Sex Development (DSD).

The primary aim of the study is to assess the number of 46,XY DSD patients referred to partecipating centres, describing the phenotypic, hormonal and genetic characterisation.

The secondary aims are to assess the correlation between molecular diagnosis and EMS/EGS score (External Masculinization Score ed ExternalGenital Score) and to evaluate the diagnostic rate over the reporting period.

Study Timeline

• Study Start: 2021-06-15
• Status Verified: 2024-10
• Study First Submitted: 2024-12-03
• Study First Submitted QC: 2024-12-06
• Last Update Submitted: 2024-12-06
• Study First Posted: 2024-12-09
• Last Update Posted: 2024-12-09
• Primary Completion: 2025-06-15
• Study Completion: 2025-06-15

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 520

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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
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)

Trial Locations

Locations (4)

IRCCS Azienda Ospedaliero-Universitaria di Bologna; 🇮🇹 Bologna, Italy

IRCCS Ospedale San Raffaele; 🇮🇹 Milano, Italy

Azienda Ospedaliero Universitaria Pisana; 🇮🇹 Pisa, Italy

Ospedale Pediatrico Bambino Gesù; 🇮🇹 Roma, Italy