Clinical trial NCT06723938: Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients
Official title: Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: 46, XY DSD
Keywords: 46 XY DSD
Lead sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
Sponsor class: OTHER
First posted: 2024-12-09
Enrollment: 520
Sex: ALL
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
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.

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.

Eligibility criteria: 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 outcomes:
measure: Prevalence of 46,XY DSD patients
timeFrame: 4 years after the start of enrollment
measure: Sex
timeFrame: at baseline
measure: EMS/EGS (External Masculinization Score ed ExternalGenital Score)
timeFrame: at baseline
measure: Age of onset of genital ambiguity signs
timeFrame: at baseline
Secondary outcomes:
Other outcomes:
Locations:
city: Bologna
country: Italy
facility: IRCCS Azienda Ospedaliero-Universitaria di Bologna
city: Milano
country: Italy
facility: IRCCS Ospedale San Raffaele
city: Pisa
country: Italy
facility: Azienda Ospedaliero Universitaria Pisana
city: Roma
country: Italy
facility: Ospedale Pediatrico Bambino Gesù
Study officials:
affiliation: IRCCS Azienda Ospedaliero-Universitaria di Bologna
name: Federico Baronio, MD
role: PRINCIPAL_INVESTIGATOR
References: