Genetic testing and counselling for male infertility

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Purpose of review

Genetic disorders can be identified in about 15% of cases of male infertility. With the widespread application of assisted reproductive technology, infertile patients are now given the possibility of having their biological children; however, a genetic risk exists for assisted reproductive technology–born offspring, implying the necessity for future parents to be appropriately informed about potential consequences. In this review, we provide current recommendations on clinical genetic testing and genetic counselling.

Recent findings

New insights are presented concerning Klinefelter syndrome, X and Y chromosome–linked deletions, monogenic diseases and pharmacogenetics.


As for Klinefelter patients, novel preventive measures to preserve fertility have been proposed although they are not yet applicable in the routine setting. Y-chromosome deletions have both diagnostic and prognostic values and their testing is advised to be performed according to the new European Academy of Andrology/European Molecular Genetics Quality Network guidelines. Among monogenic diseases, major advances have been obtained in the identification of novel genes of hypogonadotrophic hypogonadism. Pharmacogenetic approaches of hormonal treatment in infertile men with normal values of follicle-stimulating hormone (FSH) are promising and based on FSHR and FSHB polymorphisms. X chromosome–linked deletions are relevant for impaired spermatogenesis. In about 40% of male infertility, the cause is unknown and novel genetic factors are expected to be discovered in the near future.

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