46, XY DSDNCT06723938
Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients
An observational study of 46, XY DSD, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 4 sites in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- 46, XY DSD
- How many people
- 520 participants
- Where
- 4 sitesItaly
- Study dates
- 15 Jun 2021to 15 Jun 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
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.
Who may be able to join
- 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.
Who cannot join
- None.
Trial locations and contacts
4 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Italy4 sites, 4 recruiting
- Recruiting
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, 40138
Federico Baronio, 00390512144816, federico.baronio@aosp.bo.it
Federico Baronio
- Not yet recruiting
IRCCS Ospedale San Raffaele
Milan, Milano, 20132
Marianna Rita Stancampiano, 00390226432625, stancampiano.mariannarita@hsr.it
Marianna Rita Stancampiano
- Not yet recruiting
Azienda Ospedaliero Universitaria Pisana
Pisa, Pisa, 56126
Nina Tyutyusheva, 0039050992740, nina.tyutyusheva@ao-pisa.toscana.it
Nina Tyutyusheva
- Not yet recruiting
Ospedale Pediatrico Bambino Gesù
Roma, Roma, 00165
Carla Bizzarri, 00390668594727, carla.bizzarri@opbg.net
Carla Bizzarri
About this study
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.
Read the 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.
- Conditions
- 46, XY DSD
- Keywords
- 46 XY DSD
- Medical subject headings
- Disorder of Sex Development, 46,XY
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of 46,XY DSD patients
number of 46,XY DSD patients referred to partecipating centres during the reporting period
Measured: 4 years after the start of enrollment
Sex
sex assigned at birth, and current sex (M/F)
Measured: 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
Measured: at baseline
Age of onset of genital ambiguity signs
years, months
Measured: at baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Dec 2024
- Study start15 Jun 2021
- Primary completion15 Jun 2027 (estimated)
- Study completion15 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for 46, XY DSDStudies of the same condition, open and under way.
- More trials run by IRCCS Azienda Ospedaliero-Universitaria di BolognaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 520 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Federico Baronio, IRCCS Azienda Ospedaliero-Universitaria di Bologna
- Investigators
- Federico Baronio, MD, Principal investigator, IRCCS Azienda Ospedaliero-Universitaria di Bologna
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06723938
- Sponsor's protocol ID
- DSDPed
- Status last verified
- Dec 2025
- First submitted
- 3 Dec 2024
- Last updated
- 12 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients
- ClinicalTrials.gov ID
- NCT06723938
- Acronym / sponsor ID
- DSDPed
- Conditions
- 46, XY DSD
- Keywords
- 46 XY DSD
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 520 participants (estimated)
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di BolognaUniversity, hospital or other
- Study start
- 15 Jun 2021 (actual)
- Primary completion
- 15 Jun 2027 (estimated)
- Study completion
- 15 Jun 2027 (estimated)
- First posted
- 9 Dec 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (1 listed)
- None.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Prevalence of 46,XY DSD patients
Time frame: 4 years after the start of enrollment
number of 46,XY DSD patients referred to partecipating centres during the reporting period
Sex
Time frame: at baseline
sex assigned at birth, and current sex (M/F)
EMS/EGS (External Masculinization Score ed ExternalGenital Score)
Time frame: at baseline
presence/absence of micropenis, bifid scrotum, urethral meatus position, testicles position, genital tubercle, mullerian residues
Age of onset of genital ambiguity signs
Time frame: at baseline
years, months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Mar 2026.
Related trials for 46, XY DSD
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingObservational study
Inherited Reproductive Disorders
Genetic Disorder, Infertility
RecruitingObservational study
Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity
Androgen Insensitivity Syndrome, Metabolic Parameters in AIS, CAIS, PAIS and MAIS
RecruitingObservational study
Gonadal Tissue Cryopreservation for Fertility Preservation in Children With a Disorder of Sex Development
DSD, 46,XY, DSD, Ovotesticular
Not yet recruitingObservational study
Denys-Drash Syndrome and Risk of Post-transplant Lymphoproliferative Disorder
Denys-Drash Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Federico Baronio, MD principal investigator
IRCCS Azienda Ospedaliero-Universitaria di Bologna
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of 46, XY DSD, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 4 sites in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 12 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Federico Baronio (00390512144816, federico.baronio@aosp.bo.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of 46,XY DSD patients (time frame: 4 years after the start of enrollment). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Mar 2026.