GENETIC-COUNSELING FOR INFERTILITY MALE-PATIENTS

A substantial part of the male infertility caseload has a genetic basi s. To identify a genetic abnormality in an infertile man is not only i mportant for the patient himself and his offspring, but also for an op timized clinical case management. Laboratory studies (karyotyping, DNA analysis) are often required, but the single most effective diagnosti c technique in clinical genetics is taking a meticulous family history . In selected cases a dysmorphological physical examination may be req uired to recognize a syndromal disorder. The genetic examination may s ometimes establish a previously unrecognized diagnosis, and this infor ms the andrologist about possible risks of an active infertility treat ment. 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 rep roductive goals and strategies, genetic risk taking, and prenatal diag nosis if applicable.