Abstract

7% of all human males suffer from infertility. In at least 10% of these males infertility is due to genetic causes. Because modern reproduction techniques like ICSI (intracytoplasmic sperm injection) can help the couples to overcome infertility, it is mandatory to analyze underlying genetic causes of male infertility. If infertility in a male is due to a genetic defect, the risk of the respective couple for abortuses or malformed children is increased. The main and relevant causes for male infertility known to day are: numerical and structural chromosomal aberrations, meiotic defects, microdeletions in the region q11.21-23 of the Y-chromosome, mutations in the gene for cystic fibrosis and genetically determined syndromes in which infertility is a symptom. The present knowledge concerning these genetic causes of male infertility is pointed out.

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