Genetic counselling for infertile male patients

A substantial part of the male infertility caseload has a genetic basis. To identify a genetic abnormality in an infertile man is not only important for the patient himself and his offspring, but also for an optimized clinical case management. Laboratory studies (karyotyping, DNA analysis) are often required, but the single most effective diagnostic technique in clinical genetics is taking a meticulous family history. In selected cases a dysmorphological physical examination may be required to recognize a syndromal disorder. The genetic examination may sometimes establish a previously unrecognized diagnosis, and this informs the andrologist about possible risks of an active infertility treatment. However, genetic testing combined with counselling is, above all, intended to be of benefit to the counsellee himself. He should i) be provided with all factual genetic information relevant to his medical situation, and ii) be enabled to reach an informed decision about reproductive goals and strategies, genetic risk taking, and prenatal diagnosis if applicable.