Italian study aims to map rare sex development condition
NCT ID NCT06723938
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study is collecting information from 520 children and teens in Italy with 46, XY DSD, a rare condition where a person's chromosomes don't match their physical sex development. Researchers will look at medical records to understand how common different features are and how the condition changes over time. No new treatments are being tested; the goal is simply to learn more about the condition.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 520 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Jun 2021
- Expected to finish
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Jun 2027
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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.
- Ages
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Up to 18 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
4 sites. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Azienda Ospedaliero Universitaria Pisana
NOT_YET_RECRUITINGPisa, Pisa, 56126, Italy
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IRCCS Azienda Ospedaliero-Universitaria di Bologna
RECRUITINGBologna, Bologna, 40138, Italy
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IRCCS Ospedale San Raffaele
NOT_YET_RECRUITINGMilan, Milano, 20132, Italy
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Ospedale Pediatrico Bambino Gesù
NOT_YET_RECRUITINGRoma, Roma, 00165, Italy