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

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.

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Key information

Conditions

46, XY DSD Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disorder of Sex Development, 46,XY Disorders of Sex Development Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Gonadal Disorders Male Urogenital Diseases Urogenital Abnormalities Urogenital Diseases

Age range

Up to 18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

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

Study contacts

Contact information is provided by the study sponsor or research team.

Federico Baronio

CONTACT

[email protected]

00390512144816

Sponsors and collaborators

Lead sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Other

Registry information

Important dates

Study start: 2021
Primary completion: 2027
Study completion: 2027
First posted: Dec 9, 2024
Registry last updated: Mar 12, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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