2.1 Study participants and sample collection
The two infertile patients and their parents were enrolled at the West
China Second University Hospital of Sichuan University, and these
patients all had normal chromosomal karyotypes (46, XY). No large-scale
deletions were found in the Y chromosome. This study was conducted
following the tenets of the Declaration of Helsinki, and ethical
approval was obtained from the Ethical Review Board of West China Second
University Hospital, Sichuan University. Written informed consent was
obtained from each study participant prior to sample collection.