Genetic causes of human infertility

Genetic causes of human infertility are diagnosed infrequently in clinical practice. Most single-gene disorders are rare and produce a phenotype of absent or impaired pubertal development and infertility. Most patients with infertility, however, have no manifestations of pubertal delay. Physicians should be aware of some of the most common genetic causes of infertility, such as cystic fibrosis, fragile X syndrome, Y-chromosome deletions, and chromosome disorders because they have clinical implications. The molecular basis for most types of infertility remains unknown, but with the completion of the Human Genome Mapping Project, new advances are continually being made.