Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome
Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
SUMMARY
Observational study of 160 patients with sex-chromosome abnormalities and 160 matched controls. Blood, fat, muscle, skin, buccal swaps, urine will be collected and analyzed for DNA, RNA and methylation patterns. The goal is to associated genotype and epigenetic changes with the phenotype of patients with sex-chromosome abnormalities. Patients participate in questionaries, dexa-scan of bones, fibroscan of liver, ultra sound of testicles and blood will be analyzed for organ specific blood work as well as immunological and coagulation components.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Maximum Age: 90
Healthy Volunteers: t
View:
• Participants must have the sex-chromosome abnormality
Locations
Other Locations
Denmark
Aarhus university hospital
RECRUITING
Aarhus
Contact Information
Primary
Lukas O Ridder, MD
Lukrid@clin.au.dk
25337447
Time Frame
Start Date: 2022-06-13
Estimated Completion Date: 2025-05-01
Participants
Target number of participants: 320
Treatments
Klinefelter syndrome
Patients with 47, XXY n=60
Turner syndrom
Patients with 45, X n=60
47, XXX
Patients with 47, XXX n=20
47, XYY
Patients with 47, XYY n=20
Male controls
Male controls n=80
Female controls
Female controls n=80
Related Therapeutic Areas
Sponsors
Leads: University of Aarhus
Collaborators: Aarhus University Hospital