The research for the frequency of sex chromosome genome variants and the gene variants associated with sex development, and phenotype of carriers with the variants in Japan.
Not Applicable
- Conditions
- disorders of sex development
- Registration Number
- JPRN-UMIN000032145
- Lead Sponsor
- Tohoku Medical Megabank Organization
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Complete: follow-up continuing
- Sex
- All
- Target Recruitment
- 8380
Inclusion Criteria
Not provided
Exclusion Criteria
Not applicable
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method The frequencies and the phenotype of pathogenic variants related to disorders of sex development in the Japanese population.
- Secondary Outcome Measures
Name Time Method
Related Research Topics
Explore scientific publications, clinical data analysis, treatment approaches, and expert-compiled information related to the mechanisms and outcomes of this trial. Click any topic for comprehensive research insights.
What molecular mechanisms underlie sex chromosome variants in disorders of sex development (DSD) in Japanese populations?
How do gene variants associated with sex development affect phenotypic outcomes in DSD patients?
What biomarkers are used for patient selection in DSD research involving genome variants?
What are the comparative frequencies of sex chromosome variants in JPRN-UMIN000032145 versus global DSD cohorts?
What adverse events are linked to sex chromosome abnormalities in long-term observational DSD studies?