Background:
Infertility affects 1 in 6 people. Often, the causes of infertility are unknown. Treatments are successful in only about 50% of cases. Infertility caused by non obstructive azoospermia in males and primary ovarian insufficiency in females can have genetic causes. Researchers want to learn more about these genes.
Objective:
To identify genes that may cause infertility.
Eligibility:
Adult men and women with non-obstructive azoospermia (NOA) or primary ovarian insufficiency (POI) of unknown cause.
Design:
Participants will provide a saliva sample. A kit will be sent to their home. The kit will contain a collection tube and a cotton swab. They will swirl the swab inside their mouth and then seal it in the tube. They will mail the tube back to the researchers.
Male participants who are having a procedure done to collect tissue from their testes may opt to have leftover tissue provided to study researchers. This tissue would otherwise have been discarded. No new procedures will be performed just for this study.
Data may be collected from participants medical records.
Provision of signed and dated informed consent form
Stated willingness to comply with all study procedures and availability for the duration of the study
Adult male or female, of reproductive age
Clinical diagnosis of NOA, oligospermia, or POI.
Current use of medications that may cause infertility (chemotherapy, etc.)
Pregnant or lactating
Medical history indicating known common cause of infertility such as karyotype anomalies, Y-chromosome microdeletions, known monogenic causes, or other medical history affecting gamete production (i.e. injuries, surgical operations, infections, radiation, or chemotherapy).
Patients seeking infertility care diagnosed with primary ovarian insufficiency, non obstructive azoospermia, or oligospermia will be offered the opportunity to enroll in genetic sequencing to further evaluate genetic causes of infertility.
Case-only
Cross-sectional
Not listed
Genetic associations with infertility (primary ovarian insufficiency, oligospermia, non obstructive azoospermia)
Across 5 years we will sequence patients with POI and NOA to determine genetic associations with infertility
Click on the lead sponsor to view all of their trials.
