Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia.

ABSTRACT:

Background

Non-obstructive azoospermia (NOA) is the most severe form of male infertility; more than half of the NOA patients are idiopathic. Although many NOA risk genes have been detected, the genetic factors for NOA in majority of the patients are unknown. In addition, it is difficult to retrieve sperm from these patients despite using the microsurgical testicular sperm extraction (microTESE) method. Therefore, we conducted this genetic study to identify the potential genetic factors responsible for NOA and investigate the sperm retrieval rate of microTESE for genetically deficient NOA patients.

Methods

Semen analyses, sex hormone testing, and testicular biopsy were performed to categorize the patients with NOA. The chromosome karyotypes and Y chromosome microdeletion anal

SUBMITTER: Tang D 

PROVIDER: S-EPMC8383409 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature