Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: 46, XY DSD. Basic parameters: up to 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Primary outcome measures
- Prevalence of 46,XY DSD patients [Time frame: 4 years after the start of enrollment]
- Sex [Time frame: at baseline]
- EMS/EGS (External Masculinization Score ed ExternalGenital Score) [Time frame: at baseline]
- Age of onset of genital ambiguity signs [Time frame: at baseline]
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Italy · 4 centers
- IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna
- IRCCS Ospedale San Raffaele — Milan
- Azienda Ospedaliero Universitaria Pisana — Pisa
- Ospedale Pediatrico Bambino Gesù — Roma
Identifiers
NCT: NCT06723938 · DSDPed