Men with severe
oligospermia (<5 million sperm/mL ejaculate fluid) or
azoospermia should receive genetic testing to clarify etiology of
male infertility prior to treatment. Categorization by obstructive
azoospermia (OA) or non-obstructive
azoospermia (NOA) is critical since genetic testing differs for the former with normal testicular function, testicular volume (~20 mL), and
follicle-stimulating hormone (FSH) (1-8 IU/mL) when compared to the latter with small, soft testes and increased FSH. History and physician examination along with laboratory testing (following appropriate genetic counseling) is critical to accurate selection of genetic testing appropriate for
azoospermia due to primary testicular failure as compared with congenital
hypogonadotropic hypogonadism (HH). Genetic testing options include
cystic fibrosis transmembrane conductance regulator (CFTR) testing for men with congenital absence of the vas, while karyotype,
Y chromosome microdeletions (YCMD), and other specific genetic tests may be warranted depending on the clinical context of severe
oligospermia or NOA. The results of genetic testing guide management options. The most recent techniques for genetic analysis, including sperm
microRNA (
miRNA) and epigenetics, are forming the foundation for future genetic diagnosis and therapeutic targets in
male infertility.