A systematic review and evidence assessment of monogenic gene-disease relationships in human male infertility.

ABSTRACT:

Background

Genetic factors play a significant role in human male infertility, with about 4% of infertile men currently identified with genetic reasons, yet most (60-70%) still lack a definitive diagnosis and remain unexplained. Similar to other medical fields, the advent of next-generation sequencing (NGS) has resulted in the discovery of a growing array of genetic variations in infertility issues affecting both genders. With the rising count of newly discovered genes, precise diagnoses are now possible for cases of male infertility that were once considered idiopathic. Nonetheless, substantial proof supporting the gene-disease relationships (GDR) remains absent in numerous instances.

Objective and rationale

The year 2019 and 2021 saw the release and revision of the standard

SUBMITTER: Zhao Q 

PROVIDER: S-EPMC12422931 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature