Genetic syndromes leading to male infertility: a systematic review

Abstract

Male-factor infertility is a multifactorial, complex, and increasingly common condition, of which genetic factors have more frequently been implicated. Not only are the causal relationships between genetic variation and male infertility phenotypes understudied, but also the differences in frequency of disease-causing genetic alterations within different geographic and ethnic groups. Guidelines remain inconsistent as to recommended genomic testing during the male infertility workup. Our current fund of knowledge limits our diagnostic capability where the etiology of male infertility remains idiopathic in about 40% of patients, despite advances in genomic sequencing and testing.

Keywords: ADPKD; Male infertility; cystic fibrosis; genetic counseling; genetic testing; genetics; hypogonadotropic hypogonadism; mismatch repair genes; thalassemia.