Profiling the male germline genome to unravel its reproductive potential.

ABSTRACT:

Objective

To identify specific germline mutations related to sperm reproductive competence, in couples with unexplained infertility.

Design

In this retrospective study, couples were divided according to whether they had successful intracytoplasmic sperm injection outcomes (fertile) or not (infertile). Ancillary sperm function tests were performed on ejaculates, and whole exome sequencing was performed on spermatozoal DNA. Sperm aneuploidy and gene mutation profiles were compared between the 2 cohorts as well as according to the specific reasons for reproductive failure.

Setting

Center for reproductive medicine at a major academic medical center.

Patient(s)

Thirty-one couples with negative infertility workups and normal semen parameters.

Intervention(s)

C

SUBMITTER: Cheung S 

PROVIDER: S-EPMC9898105 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature