Clinical Study of Y Chromosome Variants and Infertility
- 10% of couples has difficulty having children. The term infertility' is used when a couple tries to have a child and is unable to get pregnant within 1 year, or is unable to carry a pregnancy to 20 weeks for three or more pregnancies. The causes of infertility include issues involving both men and women. Some of the known causes are endometriosis; decreases in fertility due to aging; problems with the ovaries, fallopian tubes, or uterus; and problems with the men's sperm. However, the genetic causes of infertility are not well understood. Sometimes, infertility is related to chromosome differences in both men and women. Chromosomes are the structures inside of each cell that carry our genetic material (genes). Certain differences in the Y chromosome are known to cause infertility. However, it is not known whether people with Y chromosome differences (missing or extra Y chromosome material) have medical conditions other than infertility. This study is seeking to learn whether persons with Y chromosome differences have other health issues in addition to infertility.
- To study related medical conditions in people with a known genetic cause of infertility related to the Y chromosome.
- Individuals at least 18 years of age who have infertility related to Y chromosome differences. Individuals must have participated in a previous research study run by Dr. David C. Page at the Whitehead Institute in Cambridge, Massachusetts.
- Participants will be screened with a physical exam and medical history. Blood and urine samples will be collected.
- This study will last about 4 to 5 days. Participants will have a variety of endocrine and other tests. They will provide blood, urine, and semen samples for these tests. No genetic tests will be done as a part of this study; however, DNA from participants will be stored and may be used in future studies.
- 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.
- Treatment will not be provided as part of this study.
Male Factor Infertility
Female Factor Infertility
|Official Title:||The Clinical Study of Patients With Y Chromosome Variants|
|Study Start Date:||July 2012|
Infertility is a disease that affects approximately 10% of couples world-wide. Causes of infertility are varied and include age-related decline in fecundity, other causes of ovulatory dysfunction, tubal and pelvic pathology, male causes, idiopathic, and multifactorial. The underlying genetic causes of infertility are incompletely understood. The purpose of this study is to increase our understanding of the genetic and clinical manifestations of infertility related to Ychromosome differences through detailed physical, radiologic, and laboratory studies. We will concentrate on a group of patients (both male and female) with known Y-chromosome variations and infertility previously identified by our collaborator, Dr. David Page's lab. Patients recruited and consenting to this study will be evaluated at the NIH Clinical Center.
|Contact: Maximilian Muenke, M.D.||(301) firstname.lastname@example.org|
|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 email@example.com|
|Principal Investigator:||Maximilian Muenke, M.D.||National Human Genome Research Institute (NHGRI)|