The Genetic Investigation of Reproductive Disorders
The World Health Organization estimates approximately 10% of couples experience some sort of
infertility problem.
In humans, puberty is the process through which we develop reproductive capacity. Disorders
of puberty have provided insight into the biology of reproduction and genetic technologies
have enabled us to deepen understanding in this field. The focus of this study is to better
understand the genetic control of puberty and human reproduction.
Increasing understanding of the molecular basis (genes) of inherited reproductive disorders
may enable investigators to:
- improve diagnostic testing and treatments for these problems
- develop new diagnostic tests and therapies for patients
- enhance counseling for patients and families with reproductive disorders
Observational
Observational Model: Cohort
rare sequence variant(s) in gene(s)
The investigators aim to discover genes associated with reproductive disorders by identifying rare sequence variants (mutations) in patients
1 year (ongoing if no variants are identified)
No
Nelly Pitteloud, M.D.
Principal Investigator
Centre Hositalier Universitaire Vaudois (CHUV)
Switzerland: Ethikkommission
345/11
NCT01601171
March 2012
March 2022
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