How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.

ABSTRACT: Male infertility affects approximately 17% of all men and represents a complex disorder in which not only semen parameters such as sperm motility, morphology, and number of sperm are highly variable, but also testicular phenotypes range from normal spermatogenesis to complete absence of germ cells. Genetic factors significantly contribute to the disease but chromosomal aberrations, mostly Klinefelter syndrome, and microdeletions of the Y-chromosome have remained the only diagnostically and clinically considered genetic causes. Monogenic causes remain understudied and, thus, often unidentified, leaving the majority of the male factor couple infertility pathomechanistically unexplained. This has been changing mostly because of the introduction of exome sequencing that allows the analysis of

SUBMITTER: Stallmeyer B 

PROVIDER: S-EPMC12183015 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature