WHAT ARE THE ROLES OF GENETIC FACTORS ON INFERTILITY?

A reduced fertility is defined in approximately 15% of the couples in these days. In majority of these cases, the factor is male infertility. The pathogenetic factors of male infertility are frequently micro-deletions in Y chromosome, and obstructive azoospermia characterized with congenital absence of vas deferens arising from mutations in cystic fibrosis trans-membrane regulator gene (CFTR). In addition, numerical abnomalities in sex chromosomes, and structural chromosomal defects can also cause problems in spermatogenesis, and consequently problems in fertilization. Furthermore, KAL (X-linked Kallmann Syndrome) that causes hypogonadotropic hypogonadism, DAX1 (X-linked Congenital Adrenal Hypoplasia) GNRHR (GnRH secretion defect) and PC1 (pro-hormone convertase 1) gene mutations and Androgen Receptor gene mutations can also accompany spermatogenesis insufficiency. Again, in certain couples that are classified in secondary infertility group, losses of pregnancies and stillbirths can be observed due to certain genetic defects of which they are carriers.