Identifying Genome Variants in Non-Obstructive Azoospermia (NOA) or Primary Ovarian Insufficiency (POI)

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.

NCT Number	NCT07357701
Lead Sponsor	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Conditions	Primary Ovarian Insufficiency, Azoospermia, Oligospermia
Enrollment	500 participants
Start Date	2026-03-11
Primary Completion	2031-01-01 (estimated)
Study Completion	2031-01-01 (estimated)
Updated on ClinicalTrials.gov	2026-03-16