The Clinical Study of Sex Chromosome Variants
Purpose/Lay Summary: Background:
- Chromosomes are the structures inside of each cell that carry our genetic material (genes). Certain differences in the sex chromosomes are known to cause various diseases, such as infertility, Turner syndrome, or Klinefelter syndrome. However, it is not fully understood why these differences are seen and what clinical findings may be caused with different sex chromosome variants. This study is seeking to learn more about the genetic and clinical characteristics of disorders related to the X and Y chromosomes.
- To study related medical conditions in people with sex chromosome variants.
- Patients with known sex chromosome differences may be eligible to participate.
- Healthy volunteers age 18 - 55
- Participants will be screened with a physical exam and medical history. Blood and urine samples will be collected.
- This study will last about 5 days. Participants will have a variety of endocrine and other tests. They will provide blood, urine, and semen samples for these tests.
- Imaging studies of the heart and abdomen will be performed. These tests may include ultrasounds and magnetic resonance imaging.
- Participants will also have their vision and hearing checked.
- Healthy volunteers with have a single day visit for a medical history, physical exam, and blood and skin samples.
- Treatment will not be provided as part of this study.
- Compensation is offered.
|Klinefelter Syndrome Male Factor Infertility Female Factor Infertility Turner Syndrome 47, XYY 47, XXX 47, XXY 45, X|
|Study Design:||Time Perspective: Other|
|Official Title:||The Clinical Study of Patients With Sex Chromosome Variants|
|Study Start Date:||July 30, 2012|
Please refer to this study by its ClinicalTrials.gov identifier: NCT01661010
|Contact: Maximilian Muenke, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Maximilian Muenke, M.D.||National Human Genome Research Institute (NHGRI)|