Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia.

ABSTRACT:

Background

Non-obstructive azoospermia (NOA) is the most severe type of male infertility, affecting 1% of men worldwide. Most of its etiologies remain idiopathic. Although genetic studies have identified dozens of NOA genes, monogenic mutations can also account for a small proportion of idiopathic NOA cases. Hence, this genetic study was conducted to explore the causes of monogenic variants of NOA in a cohort of Chinese patients.

Methods

Following the screening using chromosomal karyotyping, Y chromosome microdeletion analyses, and sex hormone assessments, subsequent whole-exome sequencing analysis was performed in 55 unrelated idiopathic NOA patients with male infertility to explore potential deleterious variants associated with spermatogenesis. We also performed Sanger seq

SUBMITTER: Tang D 

PROVIDER: S-EPMC8976310 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature