Genetics and male infertility

In around half of couples affected by infertility, a descriptive diagnosis can be established in the male partner. Genetic analyses can help to establish a causal diagnosis, enable individual counseling and treatment of the couple, and guide treatment decisions. Based on the clinical findings, chromosomal analysis, screening for Y chromosome azoospermia factor (AZF) deletions, and panel analyses of multiple genes are indicated. Before medically assisted reproduction (MAR) and after exclusion of other causes, a chromosomal analysis should be conducted in both partners, independent of the following, specific indications. Common genetic causes for male infertility are Klinefelter syndrome (47,XXY), chromosomal translocations, Y chromosome AZF microdeletions, and obstructive azoospermia due to bi-allelic pathogenic variants (mutations) in the CFTR gene. In recent years, a number of genes in association with morphological and functional aberrations of sperm have been identified. In addition, several genes are known to be associated with non-obstructive azoospermia (NOA) and congenital hypogonadotropic hypogonadism (CHH). The detection of the underlying genetic cause of male infertility helps to estimate the chances for MAR treatments and the recurrence risk for the offspring of affected men.

Automated summary

In about half of infertile couples, the male partner can be diagnosed with a specific condition. Genetic analysis can help establish a causal diagnosis, provide individual counseling and treatment for the couple, and guide treatment decisions. Common genetic causes of male infertility include chromosomal abnormalities, Y chromosome deletions, and gene mutations. Recent studies have identified several genes associated with sperm abnormalities. Detecting the underlying genetic cause of male infertility helps estimate the success rate of assisted reproductive treatments and the risk of recurrence in offspring.