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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06723938

Enrollment

520

Registered

2024-12-09

Start date

2021-06-15

Completion date

2027-06-15

Last updated

2026-03-12

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

46, XY DSD

Keywords

46 XY DSD

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Age

No minimum to 18 Years

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
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

Countries

Italy

Contacts

CONTACTFederico Baronio

federico.baronio@aosp.bo.it00390512144816

PRINCIPAL_INVESTIGATORFederico Baronio, MD

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Outcome results