Translational aspects of novel findings in genetics of male infertility-status quo 2021.

ABSTRACT:

Introduction

Male factor infertility concerns 7-10% of men and among these 40-60% remain unexplained.

Sources of data

This review is based on recent published literature regarding the genetic causes of male infertility.

Areas of agreement

Screening for karyotype abnormalities, biallelic pathogenic variants in the CFTR gene and Y-chromosomal microdeletions have been routine in andrology practice for >20 years, explaining ~10% of infertility cases. Rare specific conditions, such as congenital hypogonadotropic hypogonadism, disorders of sex development and defects of sperm morphology and motility, are caused by pathogenic variants in recurrently affected genes, which facilitate high diagnostic yield (40-60%) of targeted gene panel-based testing.

Areas of controversy</

SUBMITTER: Laan M 

PROVIDER: S-EPMC8677437 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature