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Identification of deleterious variants associated with male infertility genes in a cohort of idiopathic hypospermatogenesis patients.


ABSTRACT:

Introduction

Hypospermatogenesis is a common histopathological subtype of non-obstructive azoospermia and is characterized by a decrease in the total number of germ cells within the seminiferous tubule as a result of spermatogenic failure. Determination of genetic factors before intracytoplasmic sperm injection can prevent the inheritance of these factors, as hypospermatogenesis patients gives high successful sperm retrieval rate. This study aimed to identify the structural variants associated with idiopathic hypospermatogenesis (iHS) by analyzing patient cohorts diagnosed with azoospermia using whole exome sequencing.

Methods

It is a hospital-based observational study in which patients reporting with azoospermia due to spermatogenic failure were recruited prospectively. Com

SUBMITTER: Sharma N 

PROVIDER: S-EPMC11739308 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature