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

NCT06723938 | Recruiting

• 1 other identifier: DSDPed
• Study Type: observational
• Target: 520
• Locations: 1 country
• Sites: 4

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.

Conditions

46, XY DSD

Keywords

46 XY DSD

Outcome Measures

Primary Outcomes (4)

• Prevalence of 46,XY DSD patients

  number of 46,XY DSD patients referred to partecipating centres during the reporting period

  4 years after the start of enrollment

• Sex

  sex assigned at birth, and current sex (M/F)

  at baseline

• EMS/EGS (External Masculinization Score ed ExternalGenital Score)

  presence/absence of micropenis, bifid scrotum, urethral meatus position, testicles position, genital tubercle, mullerian residues

  at baseline

• Age of onset of genital ambiguity signs

  years, months

  at baseline

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Patients aged \< 18 years at diagnosis of 46,XY DSD who referred to the IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy, since 01/01/1991 or to other participating italian centres since 01/01/2000.

You may qualify if:

• 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.

You may not qualify if:

• None.

Sponsors & Collaborators

• IRCCS Azienda Ospedaliero-Universitaria di Bologna: lead

Study Sites (4)

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, Bologna, 40138, Italy

RECRUITING

IRCCS Ospedale San Raffaele

Milan, Milano, 20132, Italy

NOT YET RECRUITING

Azienda Ospedaliero Universitaria Pisana

Pisa, Pisa, 56126, Italy

NOT YET RECRUITING

Ospedale Pediatrico Bambino Gesù

Roma, Roma, 00165, Italy

NOT YET RECRUITING

MeSH Terms

Conditions

Disorder of Sex Development, 46,XY

Condition Hierarchy (Ancestors)

Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Gonadal Disorders; Endocrine System Diseases

Study Officials

• Federico Baronio, MD

  IRCCS Azienda Ospedaliero-Universitaria di Bologna

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Federico Baronio

CONTACT

00390512144816; federico.baronio@aosp.bo.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD

Study Record Dates

• First Submitted: December 3, 2024
• First Posted: December 9, 2024
• Study Start: June 15, 2021
• Primary Completion (Estimated): June 15, 2027
• Study Completion (Estimated): June 15, 2027
• Last Updated: March 12, 2026

Record last verified: 2025-12

Locations

IT (4)