Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 520
- 试验地点
- 4
- 主要终点
- Prevalence of 46,XY DSD patients
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- — 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- 未提供
结局指标
主要结局
Prevalence of 46,XY DSD patients
时间窗: 4 years after the start of enrollment
number of 46,XY DSD patients referred to partecipating centres during the reporting period
Sex
时间窗: at baseline
sex assigned at birth, and current sex (M/F)
EMS/EGS (External Masculinization Score ed ExternalGenital Score)
时间窗: at baseline
presence/absence of micropenis, bifid scrotum, urethral meatus position, testicles position, genital tubercle, mullerian residues
Age of onset of genital ambiguity signs
时间窗: at baseline
years, months
次要结局
未报告次要终点
研究者
Federico Baronio
MD
IRCCS Azienda Ospedaliero-Universitaria di Bologna